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
ENST00000444761 [[47129008, 47132733], [47134948, 47135108], [47168710, 47168994]] [[47132601, 47132733], [47134948, 47135108], [47168710, 47168802]]
ENST00000409105 [[47129012, 47132733], [47134948, 47135108], [47136161, 47136316], [47139681, 47139797], [47142861, 47142919]] [[47132601, 47132733], [47134948, 47135108], [47136161, 47136310]]
ENST00000409913 [[47129012, 47132733], [47134948, 47135108], [47142861, 47142955]] [[47132601, 47132733], [47134948, 47135101]]
ENST00000319466 [[47129012, 47132733], [47134948, 47135108], [47136161, 47136316], [47142861, 47143007]] [[47132601, 47132733], [47134948, 47135108], [47136161, 47136310]]
ENST00000409800 [[47129012, 47132733], [47134948, 47135108], [47143119, 47143193]] [[47132601, 47132733], [47134948, 47135101]]
ENST00000493804 [[47131993, 47132733], [47142861, 47142928]] None
ENST00000409207 [[47132096, 47132733], [47134948, 47135108], [47136161, 47136316], [47168710, 47168871]] [[47132601, 47132733], [47134948, 47135108], [47136161, 47136310]]
ENST00000470873 [[47132383, 47132733], [47168710, 47168912]] None
ENST00000409973 [[47132409, 47132733], [47134948, 47135108], [47136161, 47136316], [47137918, 47138012], [47142861, 47142949]] [[47132601, 47132733], [47134948, 47135108], [47136161, 47136310]]
ENST00000409147 [[47132506, 47132733], [47134948, 47135108], [47168710, 47168994]] [[47132601, 47132733], [47134948, 47135101]]
ENST00000409218 [[47132532, 47132733], [47134948, 47135108], [47136161, 47136316], [47143119, 47143251]] [[47132601, 47132733], [47134948, 47135108], [47136161, 47136310]]
ENST00000412438 [[47132604, 47132733], [47134948, 47135108], [47136161, 47136316], [47137918, 47138012], [47141207, 47141257]] [[47132604, 47132733], [47134948, 47135108], [47136161, 47136310]]
ENST00000434262 [[47132955, 47133121], [47134948, 47135108], [47136161, 47136211]] [[47133058, 47133121], [47134948, 47135108], [47136161, 47136211]]
ENST00000477791 [[47134667, 47135108], [47136161, 47136316], [47142861, 47142930]] None
ENST00000479225 [[47134838, 47135108], [47136161, 47136316], [47168710, 47168853]] None
ENST00000417180 [[47135073, 47135108], [47136161, 47136316], [47140838, 47141213]] [[47135073, 47135108], [47136161, 47136310]]
ENST00000487121 [[47135845, 47136316], [47168710, 47168866]] None
NM_001171506 [[47129008, 47132733], [47134948, 47135108], [47136161, 47136316], [47137918, 47138012], [47142861, 47143007]] [[47132601, 47132733], [47134948, 47135108], [47136161, 47136310]]
NM_139279 [[47129008, 47132733], [47134948, 47135108], [47136161, 47136316], [47142861, 47143007]] [[47132601, 47132733], [47134948, 47135108], [47136161, 47136310]]
NM_001171509 [[47129008, 47132733], [47134948, 47135108], [47142861, 47143007]] [[47132601, 47132733], [47134948, 47135101]]
NM_001171507 [[47129008, 47132733], [47134948, 47135108], [47136161, 47136316], [47143119, 47143251]] [[47132601, 47132733], [47134948, 47135108], [47136161, 47136310]]
NM_001171510 [[47129008, 47132733], [47134948, 47135108], [47143119, 47143251]] [[47132601, 47132733], [47134948, 47135101]]
NM_001171508 [[47129008, 47132733], [47134948, 47135108], [47136161, 47136316], [47168710, 47168994]] [[47132601, 47132733], [47134948, 47135108], [47136161, 47136310]]
NM_001171511 [[47129008, 47132733], [47134948, 47135108], [47168710, 47168994]] [[47132601, 47132733], [47134948, 47135108], [47168710, 47168802]]
Promoter
Chrom Start End Description
chr2 47142884 47142955 CAGE_peak_1_at_MCFD2_5end
chr2 47143160 47143225 CAGE_peak_3_at_MCFD2_5end
chr2 47168812 47168828 CAGE_peak_5_at_MCFD2_5end
chr2 47168850 47168889 CAGE_peak_2_at_MCFD2_5end
chr2 47168906 47168917 CAGE_peak_6_at_MCFD2_5end
chr2 47169397 47169406 CAGE_peak_19_at_MCFD2_5end
chr2 47169417 47169440 CAGE_peak_4_at_MCFD2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I046697 46697568 46701573 2.54 [{'connected_gene': 'SOCS5', 'score': 560.36}, {'connected_gene': 'MSH6', 'score': 22.58}, {'connected_gene': 'ENSG00000228925', 'score': 16.07}, {'connected_gene': 'LINC01119', 'score': 14.82}, {'connected_gene': 'ENSG00000225187', 'score': 12.04}, {'connected_gene': 'RPL18AP6', 'score': 11.47}, {'connected_gene': 'ENSG00000226548', 'score': 9.81}, {'connected_gene': 'ATP6V1E2', 'score': 6.45}, {'connected_gene': 'MCFD2', 'score': 1.84}, {'connected_gene': 'ENSG00000260977', 'score': 0.18}]
chr2 GH02I046765 46765876 46766977 0.2 [{'connected_gene': 'SOCS5', 'score': 11.01}, {'connected_gene': 'LINC01119', 'score': 10.64}, {'connected_gene': 'ENSG00000226548', 'score': 10.58}, {'connected_gene': 'MCFD2', 'score': 4.65}, {'connected_gene': 'ENSG00000260977', 'score': 0.39}]
chr2 GH02I046769 46769923 46771351 1.23 [{'connected_gene': 'CRIPT', 'score': 8.06}, {'connected_gene': 'SOCS5', 'score': 3.75}, {'connected_gene': 'MCFD2', 'score': 1.7}, {'connected_gene': 'ENSG00000260977', 'score': 0.44}]
chr2 GH02I046811 46811225 46815471 1.44 [{'connected_gene': 'ATP6V1E2', 'score': 4.79}, {'connected_gene': 'MCFD2', 'score': 3.07}, {'connected_gene': 'SOCS5', 'score': 2.29}, {'connected_gene': 'LINC01118', 'score': 0.77}, {'connected_gene': 'ENSG00000260977', 'score': 0.28}]
chr2 GH02I046538 46538001 46539000 1.01 [{'connected_gene': 'ATP6V1E2', 'score': 25.84}, {'connected_gene': 'ENSG00000253515', 'score': 12.61}, {'connected_gene': 'TTC7A', 'score': 5.16}, {'connected_gene': 'RHOQ', 'score': 3.54}, {'connected_gene': 'MCFD2', 'score': 1.36}, {'connected_gene': 'GC02M046499', 'score': 0.28}]
chr2 GH02I046932 46932363 46934651 0.2 [{'connected_gene': 'MCFD2', 'score': 31.25}, {'connected_gene': 'CALM2', 'score': 9.62}, {'connected_gene': 'SOCS5', 'score': 9.52}, {'connected_gene': 'TTC7A', 'score': 5.56}, {'connected_gene': 'GC02M046933', 'score': 0.77}]
chr2 GH02I046888 46888579 46889600 1.22 [{'connected_gene': 'MCFD2', 'score': 18.58}, {'connected_gene': 'ENSG00000225187', 'score': 13.33}, {'connected_gene': 'TTC7A', 'score': 13.21}, {'connected_gene': 'ENSG00000226548', 'score': 11.43}, {'connected_gene': 'LINC01119', 'score': 11.35}, {'connected_gene': 'MSH6', 'score': 10.33}, {'connected_gene': 'LOC100506142', 'score': 9.83}, {'connected_gene': 'ENSG00000228925', 'score': 5.03}, {'connected_gene': 'GC02M046879', 'score': 0.44}]
chr2 GH02I046885 46885052 46888302 0.63 [{'connected_gene': 'MCFD2', 'score': 17.88}, {'connected_gene': 'TTC7A', 'score': 13.21}, {'connected_gene': 'ENSG00000226548', 'score': 11.45}, {'connected_gene': 'LINC01119', 'score': 11.36}, {'connected_gene': 'LOC101927043', 'score': 10.48}, {'connected_gene': 'ENSG00000228925', 'score': 6.32}, {'connected_gene': 'GC02M046879', 'score': 0.44}]
chr2 GH02I047021 47021071 47022391 0.2 [{'connected_gene': 'MCFD2', 'score': 5.29}, {'connected_gene': 'TTC7A', 'score': 4.59}, {'connected_gene': 'ENSG00000233845', 'score': 0.37}, {'connected_gene': 'GC02M046968', 'score': 0.25}]
chr2 GH02I046939 46939150 46946000 2.75 [{'connected_gene': 'MCFD2', 'score': 595.22}, {'connected_gene': 'TTC7A', 'score': 564.0}, {'connected_gene': 'ENSG00000225187', 'score': 10.84}, {'connected_gene': 'ENSG00000228925', 'score': 10.18}, {'connected_gene': 'ENSG00000272814', 'score': 0.39}]
chr2 GH02I046913 46913213 46917230 2.07 [{'connected_gene': 'MCFD2', 'score': 583.51}, {'connected_gene': 'GC02P046913', 'score': 550.77}, {'connected_gene': 'TTC7A', 'score': 550.77}, {'connected_gene': 'ENSG00000228925', 'score': 10.42}]
chr2 GH02I046922 46922027 46923746 0.54 [{'connected_gene': 'MCFD2', 'score': 51.71}, {'connected_gene': 'ENSG00000228925', 'score': 10.29}, {'connected_gene': 'TTC7A', 'score': 5.57}, {'connected_gene': 'GC02M046933', 'score': 0.39}]
chr2 GH02I046909 46909003 46911011 1.61 [{'connected_gene': 'MCFD2', 'score': 612.86}, {'connected_gene': 'ENSG00000226548', 'score': 10.11}, {'connected_gene': 'LINC01119', 'score': 10.04}, {'connected_gene': 'TTC7A', 'score': 1.7}, {'connected_gene': 'RHOQ', 'score': 1.39}, {'connected_gene': 'GC02P046913', 'score': 0.77}, {'connected_gene': 'PIR31573', 'score': 0.44}]
chr2 GH02I047055 47055339 47059785 1.38 [{'connected_gene': 'CALM2', 'score': 10.97}, {'connected_gene': 'TTC7A', 'score': 6.62}, {'connected_gene': 'MCFD2', 'score': 1.76}, {'connected_gene': 'ENSG00000225187', 'score': 0.39}, {'connected_gene': 'ENSG00000233845', 'score': 0.37}, {'connected_gene': 'STPG4', 'score': 0.15}]
chr2 GH02I046870 46870278 46879511 1.69 [{'connected_gene': 'TTC7A', 'score': 24.36}, {'connected_gene': 'SOCS5', 'score': 21.99}, {'connected_gene': 'MSH6', 'score': 21.41}, {'connected_gene': 'MCFD2', 'score': 18.69}, {'connected_gene': 'STPG4', 'score': 10.45}, {'connected_gene': 'MSH2', 'score': 9.97}, {'connected_gene': 'GC02M046879', 'score': 0.44}, {'connected_gene': 'ENSG00000226548', 'score': 0.34}]
chr2 GH02I046863 46863150 46864254 0.31 [{'connected_gene': 'TTC7A', 'score': 11.27}, {'connected_gene': 'MCFD2', 'score': 11.22}, {'connected_gene': 'SOCS5', 'score': 10.17}, {'connected_gene': 'ENSG00000226548', 'score': 0.39}, {'connected_gene': 'GC02M046879', 'score': 0.37}]
chr2 GH02I046963 46963601 46972628 1.73 [{'connected_gene': 'TTC7A', 'score': 42.01}, {'connected_gene': 'MCFD2', 'score': 20.06}, {'connected_gene': 'CALM2', 'score': 10.38}, {'connected_gene': 'MSH6', 'score': 9.75}, {'connected_gene': 'ENSG00000228925', 'score': 4.72}, {'connected_gene': 'RHOQ', 'score': 3.77}, {'connected_gene': 'GC02M046968', 'score': 0.44}, {'connected_gene': 'PIR42793', 'score': 0.39}]
chr2 GH02I046977 46977445 46990415 1.74 [{'connected_gene': 'TTC7A', 'score': 36.09}, {'connected_gene': 'MCFD2', 'score': 21.16}, {'connected_gene': 'ENSG00000233845', 'score': 11.6}, {'connected_gene': 'CALM2', 'score': 10.9}, {'connected_gene': 'ENSG00000228925', 'score': 5.47}, {'connected_gene': 'RHOQ', 'score': 4.06}, {'connected_gene': 'GC02M046968', 'score': 0.44}]
chr2 GH02I046689 46689767 46692420 0.9 [{'connected_gene': 'TTC7A', 'score': 10.44}, {'connected_gene': 'MCFD2', 'score': 10.44}, {'connected_gene': 'ENSG00000253515', 'score': 10.24}, {'connected_gene': 'LINC01119', 'score': 9.79}, {'connected_gene': 'ENSG00000226548', 'score': 9.76}, {'connected_gene': 'SOCS5', 'score': 5.23}, {'connected_gene': 'LOC105374585', 'score': 0.37}]
chr2 GH02I046865 46865407 46868336 0.97 [{'connected_gene': 'TTC7A', 'score': 11.28}, {'connected_gene': 'MCFD2', 'score': 11.23}, {'connected_gene': 'GC02M046879', 'score': 0.39}, {'connected_gene': 'ENSG00000226548', 'score': 0.39}]
chr2 GH02I046949 46949502 46952361 0.46 [{'connected_gene': 'TTC7A', 'score': 19.98}, {'connected_gene': 'MCFD2', 'score': 18.26}, {'connected_gene': 'ENSG00000228925', 'score': 4.61}, {'connected_gene': 'ENSG00000272814', 'score': 0.44}]
chr2 GH02I046917 46917722 46917871 0.74 [{'connected_gene': 'TTC7A', 'score': 550.77}, {'connected_gene': 'MCFD2', 'score': 15.8}, {'connected_gene': 'GC02P046913', 'score': 0.77}, {'connected_gene': 'GC02M046933', 'score': 0.37}]
chr2 GH02I046919 46917522 46917671 0.68 [{'connected_gene': 'TTC7A', 'score': 550.77}, {'connected_gene': 'GC02P046913', 'score': 0.77}, {'connected_gene': 'GC02M046933', 'score': 0.37}, {'connected_gene': 'MCFD2', 'score': 0.34}]
chr2 GH02I046918 46918942 46919091 0.65 [{'connected_gene': 'TTC7A', 'score': 0.77}, {'connected_gene': 'GC02M046933', 'score': 0.37}, {'connected_gene': 'MCFD2', 'score': 0.34}]
chr2 GH02I046948 46948254 46949322 0.2 [{'connected_gene': 'TTC7A', 'score': 11.81}, {'connected_gene': 'MCFD2', 'score': 10.87}, {'connected_gene': 'ENSG00000272814', 'score': 0.44}]
chr2 GH02I046958 46958293 46961451 0.43 [{'connected_gene': 'TTC7A', 'score': 27.0}, {'connected_gene': 'CALM2', 'score': 10.06}, {'connected_gene': 'MCFD2', 'score': 5.4}, {'connected_gene': 'ENSG00000228925', 'score': 4.81}, {'connected_gene': 'PIR42793', 'score': 0.77}, {'connected_gene': 'GC02M046968', 'score': 0.39}]
chr2 GH02I047065 47065273 47080599 2.17 [{'connected_gene': 'TTC7A', 'score': 20.59}, {'connected_gene': 'CALM2', 'score': 15.04}, {'connected_gene': 'ENSG00000233845', 'score': 11.92}, {'connected_gene': 'STPG4', 'score': 10.56}, {'connected_gene': 'MSH6', 'score': 9.75}, {'connected_gene': 'MCFD2', 'score': 2.6}, {'connected_gene': 'ENSG00000225187', 'score': 0.44}]
chr2 GH02I046999 46999257 47001629 0.6 [{'connected_gene': 'MSH6', 'score': 21.06}, {'connected_gene': 'ENSG00000228925', 'score': 19.83}, {'connected_gene': 'ENSG00000225187', 'score': 12.2}, {'connected_gene': 'RPL18AP6', 'score': 11.47}, {'connected_gene': 'RPL36AP15', 'score': 10.84}, {'connected_gene': 'CALM2', 'score': 10.13}, {'connected_gene': 'TTC7A', 'score': 7.33}, {'connected_gene': 'MCFD2', 'score': 6.03}, {'connected_gene': 'GC02M046968', 'score': 0.31}, {'connected_gene': 'ENSG00000233845', 'score': 0.26}]
chr2 GH02I046650 46650622 46650791 0.98 [{'connected_gene': 'LINC01119', 'score': 10.78}, {'connected_gene': 'ENSG00000226548', 'score': 10.76}, {'connected_gene': 'SOCS5', 'score': 10.61}, {'connected_gene': 'MCFD2', 'score': 4.48}, {'connected_gene': 'LOC105374584', 'score': 0.39}, {'connected_gene': 'ENSG00000279254', 'score': 0.37}]
chr2 GH02I046801 46801787 46807443 1.28 [{'connected_gene': 'ENSG00000226548', 'score': 11.64}, {'connected_gene': 'SOCS5', 'score': 10.11}, {'connected_gene': 'ENSG00000253515', 'score': 9.54}, {'connected_gene': 'ENSG00000232696', 'score': 9.45}, {'connected_gene': 'MCFD2', 'score': 4.65}, {'connected_gene': 'LINC01118', 'score': 0.39}, {'connected_gene': 'ENSG00000260977', 'score': 0.31}]
chr2 GH02I046880 46880286 46884184 1.31 [{'connected_gene': 'GC02M046879', 'score': 550.77}, {'connected_gene': 'MCFD2', 'score': 10.75}, {'connected_gene': 'SOCS5', 'score': 2.83}, {'connected_gene': 'ENSG00000228925', 'score': 0.37}]
chr2 GH02I046937 46937017 46939026 0.38 [{'connected_gene': 'GC02M046933', 'score': 550.77}, {'connected_gene': 'MCFD2', 'score': 11.79}, {'connected_gene': 'ENSG00000228925', 'score': 10.5}, {'connected_gene': 'TTC7A', 'score': 0.34}]
chr2 GH02I047014 47014507 47017251 1.12 [{'connected_gene': 'ENSG00000233845', 'score': 12.44}, {'connected_gene': 'ENSG00000228925', 'score': 5.77}, {'connected_gene': 'MCFD2', 'score': 4.83}, {'connected_gene': 'GC02M046968', 'score': 0.26}, {'connected_gene': 'TTC7A', 'score': 0.15}]
chr2 GH02I046844 46844987 46861399 1.72 [{'connected_gene': 'ENSG00000226548', 'score': 550.77}, {'connected_gene': 'CALM2', 'score': 10.33}, {'connected_gene': 'MCFD2', 'score': 9.26}, {'connected_gene': 'SOCS5', 'score': 2.22}, {'connected_gene': 'LINC01119', 'score': 0.28}]
chr2 GH02I046953 46953834 46956628 1.3 [{'connected_gene': 'PIR42793', 'score': 550.77}, {'connected_gene': 'ENSG00000272814', 'score': 550.77}, {'connected_gene': 'TTC7A', 'score': 18.41}, {'connected_gene': 'MCFD2', 'score': 14.47}, {'connected_gene': 'ENSG00000228925', 'score': 5.19}]
chr2 GH02I046973 46973056 46974132 0.2 [{'connected_gene': 'GC02M046968', 'score': 550.77}, {'connected_gene': 'TTC7A', 'score': 14.08}, {'connected_gene': 'CALM2', 'score': 10.02}, {'connected_gene': 'MCFD2', 'score': 6.14}, {'connected_gene': 'ENSG00000228925', 'score': 4.72}, {'connected_gene': 'PIR42793', 'score': 0.37}]
chr2 GH02I046406 46406726 46412339 1.45 [{'connected_gene': 'ENSG00000228925', 'score': 16.04}, {'connected_gene': 'ENSG00000225187', 'score': 12.02}, {'connected_gene': 'SRBD1', 'score': 9.84}, {'connected_gene': 'MCFD2', 'score': 5.11}, {'connected_gene': 'LINC01820', 'score': 0.37}, {'connected_gene': 'LOC101805491', 'score': 0.37}, {'connected_gene': 'GC02M046254', 'score': 0.31}]
chr2 GH02I046323 46323052 46338417 1.69 [{'connected_gene': 'ENSG00000228925', 'score': 16.02}, {'connected_gene': 'EPAS1', 'score': 12.47}, {'connected_gene': 'ENSG00000225187', 'score': 12.02}, {'connected_gene': 'ENSG00000232696', 'score': 10.68}, {'connected_gene': 'ENSG00000231336', 'score': 10.52}, {'connected_gene': 'SRBD1', 'score': 9.83}, {'connected_gene': 'MCFD2', 'score': 5.41}, {'connected_gene': 'SOCS5', 'score': 1.94}, {'connected_gene': 'LOC105374583', 'score': 0.44}, {'connected_gene': 'GC02M046254', 'score': 0.14}]
chr2 GH02I046469 46469652 46470835 0.75 [{'connected_gene': 'ENSG00000253515', 'score': 12.5}, {'connected_gene': 'LOC101805491', 'score': 10.7}, {'connected_gene': 'MCFD2', 'score': 5.43}, {'connected_gene': 'TTC7A', 'score': 4.97}, {'connected_gene': 'RHOQ', 'score': 2.88}, {'connected_gene': 'TMEM247', 'score': 0.44}, {'connected_gene': 'RN7SL817P', 'score': 0.34}, {'connected_gene': 'ENSG00000284608', 'score': 0.26}]
chr2 GH02I046460 46460203 46462551 1.36 [{'connected_gene': 'ENSG00000253515', 'score': 11.47}, {'connected_gene': 'ENSG00000232696', 'score': 10.31}, {'connected_gene': 'LOC101805491', 'score': 9.9}, {'connected_gene': 'TTC7A', 'score': 8.28}, {'connected_gene': 'RHOQ', 'score': 2.66}, {'connected_gene': 'MCFD2', 'score': 2.1}, {'connected_gene': 'RN7SL817P', 'score': 0.39}, {'connected_gene': 'TMEM247', 'score': 0.37}, {'connected_gene': 'ENSG00000284608', 'score': 0.29}]
chr2 GH02I046925 46925862 46926011 0.46 [{'connected_gene': 'ENSG00000226548', 'score': 10.28}, {'connected_gene': 'LINC01119', 'score': 10.23}, {'connected_gene': 'TTC7A', 'score': 0.44}, {'connected_gene': 'GC02M046933', 'score': 0.39}, {'connected_gene': 'MCFD2', 'score': 0.37}]

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