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
ENST00000234195 [[38177605, 38177738], [38178375, 38179344], [38201182, 38201357], [38202354, 38202457], [38208425, 38208486], [38216683, 38216759], [38218362, 38218440], [38224558, 38224657], [38231133, 38231187], [38231278, 38231359], [38294124, 38294280]] [[38177721, 38177738], [38178375, 38179344], [38201182, 38201357], [38202354, 38202457], [38208425, 38208486], [38216683, 38216759], [38218362, 38218440], [38224558, 38224657], [38231133, 38231187], [38231278, 38231359], [38294124, 38294133]]
ENST00000469469 [[38230010, 38230169], [38231133, 38231187], [38231278, 38231359], [38294124, 38294285]] None
ENST00000414644 [[38150329, 38150510], [38156404, 38156872], [38201182, 38201257]] [[38156420, 38156872], [38201182, 38201257]]
ENST00000354545 [[38152461, 38152568], [38156404, 38156872], [38201182, 38201357], [38202354, 38202457], [38208425, 38208486], [38216683, 38216759], [38218362, 38218440], [38224558, 38224657], [38231133, 38231187], [38231278, 38231359], [38244328, 38244407]] [[38156420, 38156872], [38201182, 38201357], [38202354, 38202457], [38208425, 38208486], [38216683, 38216759], [38218362, 38218440], [38224558, 38224657], [38231133, 38231187], [38231278, 38231359], [38244328, 38244382]]
ENST00000440353 [[38152489, 38152568], [38156404, 38156872], [38177653, 38177738], [38201182, 38201357], [38202354, 38202457], [38208425, 38208486], [38216683, 38216759], [38218362, 38218440], [38224558, 38225506]] [[38156420, 38156872], [38177653, 38177684]]
ENST00000406384 [[38155901, 38156079], [38156404, 38156872], [38201182, 38201357], [38202354, 38202457], [38208425, 38208486], [38216683, 38216759], [38218362, 38218440], [38224558, 38224657], [38231133, 38231187], [38231278, 38231359], [38244328, 38244887]] [[38156420, 38156872], [38201182, 38201357], [38202354, 38202457], [38208425, 38208486], [38216683, 38216759], [38218362, 38218440], [38224558, 38224657], [38231133, 38231187], [38231278, 38231359], [38244328, 38244382]]
ENST00000407257 [[38177574, 38177738], [38178375, 38179344], [38201182, 38201357], [38202354, 38202457], [38208425, 38208486], [38216683, 38216759], [38218362, 38218440], [38224558, 38224657], [38231133, 38231187], [38231278, 38231359], [38239745, 38239792], [38244328, 38244701]] [[38177721, 38177738], [38178375, 38179344], [38201182, 38201357], [38202354, 38202457], [38208425, 38208486], [38216683, 38216759], [38218362, 38218440], [38224558, 38224657], [38231133, 38231187], [38231278, 38231359], [38239745, 38239748]]
ENST00000417700 [[38177595, 38177738], [38201182, 38201357], [38202354, 38202457], [38208425, 38208486], [38216683, 38216759], [38218362, 38218440], [38224558, 38224657], [38231133, 38231187], [38231278, 38231359], [38244328, 38244884]] [[38177721, 38177738], [38201182, 38201357], [38202354, 38202457], [38208425, 38208486], [38216683, 38216759], [38218362, 38218440], [38224558, 38224657], [38231133, 38231187], [38231278, 38231359], [38244328, 38244382]]
ENST00000442857 [[38177606, 38177738], [38201182, 38201357], [38202354, 38202457], [38208425, 38208486], [38216683, 38216759], [38218362, 38218440], [38224558, 38224657], [38231133, 38231187], [38231278, 38231330]] [[38177721, 38177738], [38201182, 38201357], [38202354, 38202457], [38208425, 38208486], [38216683, 38216759], [38218362, 38218440], [38224558, 38224657], [38231133, 38231187], [38231278, 38231330]]
ENST00000402091 [[38177643, 38177738], [38178375, 38180253]] [[38177721, 38177738], [38178375, 38179435]]
ENST00000496735 [[38201833, 38202457], [38208425, 38208486], [38216683, 38216753]] None
ENST00000425641 [[38216689, 38216759], [38218362, 38218440], [38224558, 38224657], [38231133, 38231187], [38231278, 38231359], [38244328, 38244378], [38244720, 38244870]] [[38216689, 38216759], [38218362, 38218440], [38224558, 38224657], [38231133, 38231187], [38231278, 38231359], [38244328, 38244378], [38244720, 38244739]]
NM_001322212 [[38152461, 38152568], [38156404, 38156872], [38201182, 38201357], [38202354, 38202457], [38208425, 38208486], [38216683, 38216759], [38218362, 38218440], [38224558, 38224657], [38231133, 38231187], [38231278, 38231359], [38294124, 38294280]] [[38156420, 38156872], [38201182, 38201357], [38202354, 38202457], [38208425, 38208486], [38216683, 38216759], [38218362, 38218440], [38224558, 38224657], [38231133, 38231187], [38231278, 38231359], [38294124, 38294133]]
NM_144713 [[38177586, 38177738], [38178375, 38179344], [38201182, 38201357], [38202354, 38202457], [38208425, 38208486], [38216683, 38216759], [38218362, 38218440], [38224558, 38224657], [38231133, 38231187], [38231278, 38231359], [38294124, 38294285]] [[38177721, 38177738], [38178375, 38179344], [38201182, 38201357], [38202354, 38202457], [38208425, 38208486], [38216683, 38216759], [38218362, 38218440], [38224558, 38224657], [38231133, 38231187], [38231278, 38231359], [38294124, 38294133]]
NM_001170791 [[38152461, 38152568], [38156404, 38156872], [38201182, 38201357], [38202354, 38202457], [38208425, 38208486], [38216683, 38216759], [38218362, 38218440], [38224558, 38224657], [38231133, 38231187], [38231278, 38231359], [38244328, 38244890]] [[38156420, 38156872], [38201182, 38201357], [38202354, 38202457], [38208425, 38208486], [38216683, 38216759], [38218362, 38218440], [38224558, 38224657], [38231133, 38231187], [38231278, 38231359], [38244328, 38244382]]
NM_001322211 [[38152673, 38152849], [38156404, 38156872], [38201182, 38201357], [38202354, 38202457], [38208425, 38208486], [38216683, 38216759], [38218362, 38218440], [38224558, 38224657], [38231133, 38231187], [38231278, 38231359], [38244328, 38244890]] [[38156420, 38156872], [38201182, 38201357], [38202354, 38202457], [38208425, 38208486], [38216683, 38216759], [38218362, 38218440], [38224558, 38224657], [38231133, 38231187], [38231278, 38231359], [38244328, 38244382]]
NM_001170792 [[38155901, 38156079], [38156404, 38156872], [38201182, 38201357], [38202354, 38202457], [38208425, 38208486], [38216683, 38216759], [38218362, 38218440], [38224558, 38224657], [38231133, 38231187], [38231278, 38231359], [38244328, 38244890]] [[38156420, 38156872], [38201182, 38201357], [38202354, 38202457], [38208425, 38208486], [38216683, 38216759], [38218362, 38218440], [38224558, 38224657], [38231133, 38231187], [38231278, 38231359], [38244328, 38244382]]
NM_001170793 [[38177586, 38177738], [38201182, 38201357], [38202354, 38202457], [38208425, 38208486], [38216683, 38216759], [38218362, 38218440], [38224558, 38224657], [38231133, 38231187], [38231278, 38231359], [38244328, 38244890]] [[38177721, 38177738], [38201182, 38201357], [38202354, 38202457], [38208425, 38208486], [38216683, 38216759], [38218362, 38218440], [38224558, 38224657], [38231133, 38231187], [38231278, 38231359], [38244328, 38244382]]
Promoter
Chrom Start End Description
chr2 38152401 38152444 CAGE_peak_1_at_FAM82A1_5end
chr2 38152479 38152502 CAGE_peak_2_at_FAM82A1_5end
chr2 38177601 38177612 CAGE_peak_6_at_FAM82A1_5end
chr2 38177618 38177619 CAGE_peak_11_at_FAM82A1_5end
chr2 38177620 38177627 CAGE_peak_8_at_FAM82A1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I037386 37386738 37388807 0.66 [{'connected_gene': 'QPCT', 'score': 10.87}, {'connected_gene': 'LOC101929542', 'score': 10.78}, {'connected_gene': 'PRKD3', 'score': 10.78}, {'connected_gene': 'RNU6-939P', 'score': 10.42}, {'connected_gene': 'RMDN2', 'score': 9.76}, {'connected_gene': 'GC02P037427', 'score': 0.28}]
chr2 GH02I037387 37386364 37386473 0.2 [{'connected_gene': 'QPCT', 'score': 10.87}, {'connected_gene': 'LOC101929542', 'score': 10.78}, {'connected_gene': 'PRKD3', 'score': 10.78}, {'connected_gene': 'RNU6-939P', 'score': 10.43}, {'connected_gene': 'RMDN2', 'score': 9.76}, {'connected_gene': 'GC02P037427', 'score': 0.28}]
chr2 GH02I037388 37388867 37391854 1.58 [{'connected_gene': 'PRKD3', 'score': 10.97}, {'connected_gene': 'LOC101929542', 'score': 10.97}, {'connected_gene': 'QPCT', 'score': 10.86}, {'connected_gene': 'RNU6-939P', 'score': 10.77}, {'connected_gene': 'CYP1B1', 'score': 10.02}, {'connected_gene': 'RMDN2', 'score': 9.76}, {'connected_gene': 'CDC42EP3', 'score': 4.34}, {'connected_gene': 'EIF2AK2', 'score': 3.03}, {'connected_gene': 'GC02P037427', 'score': 0.29}]
chr2 GH02I037375 37375877 37379187 1.64 [{'connected_gene': 'PRKD3', 'score': 11.02}, {'connected_gene': 'LOC101929542', 'score': 11.02}, {'connected_gene': 'RNU6-939P', 'score': 10.88}, {'connected_gene': 'CDC42EP3', 'score': 9.36}, {'connected_gene': 'RMDN2', 'score': 9.25}, {'connected_gene': 'CYP1B1', 'score': 9.16}, {'connected_gene': 'QPCT', 'score': 3.53}, {'connected_gene': 'GPATCH11', 'score': 1.4}, {'connected_gene': 'GC02P037427', 'score': 0.25}]
chr2 GH02I038070 38070412 38078033 2.37 [{'connected_gene': 'CYP1B1', 'score': 561.74}, {'connected_gene': 'CYP1B1-AS1', 'score': 555.8}, {'connected_gene': 'ENSG00000272054', 'score': 40.2}, {'connected_gene': 'SRSF7', 'score': 36.48}, {'connected_gene': 'DHX57', 'score': 18.91}, {'connected_gene': 'ASS1P2', 'score': 12.95}, {'connected_gene': 'CEBPZ', 'score': 11.55}, {'connected_gene': 'HEATR5B', 'score': 11.55}, {'connected_gene': 'RMDN2', 'score': 7.76}]
chr2 GH02I038036 38036184 38039077 1.28 [{'connected_gene': 'CYP1B1', 'score': 12.58}, {'connected_gene': 'CYP1B1-AS1', 'score': 11.54}, {'connected_gene': 'CDC42EP3', 'score': 2.73}, {'connected_gene': 'LOC100419680', 'score': 0.34}, {'connected_gene': 'RMDN2-AS1', 'score': 0.31}, {'connected_gene': 'RMDN2', 'score': 0.13}]
chr2 GH02I038089 38089434 38089817 0.22 [{'connected_gene': 'CYP1B1', 'score': 17.54}, {'connected_gene': 'RMDN2', 'score': 1.43}, {'connected_gene': 'CDC42EP3', 'score': 1.23}, {'connected_gene': 'CYP1B1-AS1', 'score': 0.37}]
chr2 GH02I038153 38153628 38153993 0.72 [{'connected_gene': 'CYP1B1', 'score': 15.18}, {'connected_gene': 'RMDN2', 'score': 2.96}, {'connected_gene': 'CDC42EP3', 'score': 2.35}, {'connected_gene': 'GC02M038149', 'score': 0.77}, {'connected_gene': 'ENSG00000273006', 'score': 0.28}, {'connected_gene': 'CYP1B1-AS1', 'score': 0.18}, {'connected_gene': 'GC02M038108', 'score': 0.06}]
chr2 GH02I038088 38088443 38088743 0.46 [{'connected_gene': 'CYP1B1', 'score': 29.29}, {'connected_gene': 'RMDN2', 'score': 5.8}, {'connected_gene': 'CDC42EP3', 'score': 1.45}, {'connected_gene': 'CYP1B1-AS1', 'score': 0.37}]
chr2 GH02I038274 38274600 38274801 0.72 [{'connected_gene': 'CYP1B1', 'score': 10.85}, {'connected_gene': 'RMDN2', 'score': 9.88}, {'connected_gene': 'LOC105374467', 'score': 0.77}, {'connected_gene': 'GAPDHP25', 'score': 0.39}, {'connected_gene': 'GC02M038108', 'score': 0.08}]
chr2 GH02I038245 38245146 38245374 0.55 [{'connected_gene': 'CYP1B1', 'score': 11.11}, {'connected_gene': 'RMDN2', 'score': 1.4}, {'connected_gene': 'LOC102723739', 'score': 0.44}, {'connected_gene': 'LOC105374467', 'score': 0.31}, {'connected_gene': 'GC02M038108', 'score': 0.07}]
chr2 GH02I037908 37908837 37910210 0.38 [{'connected_gene': 'CYP1B1', 'score': 9.88}, {'connected_gene': 'RMDN2', 'score': 4.83}, {'connected_gene': 'LINC00211', 'score': 0.29}]
chr2 GH02I037921 37921324 37926857 2.07 [{'connected_gene': 'RMDN2', 'score': 565.76}, {'connected_gene': 'DHX57', 'score': 10.78}, {'connected_gene': 'CYP1B1', 'score': 10.51}, {'connected_gene': 'GC02P037921', 'score': 0.77}, {'connected_gene': 'GC02P037956', 'score': 0.29}]
chr2 GH02I038344 38344746 38345033 0.22 [{'connected_gene': 'RMDN2', 'score': 2.64}, {'connected_gene': 'ATL2', 'score': 1.4}, {'connected_gene': 'PIR38031', 'score': 0.39}, {'connected_gene': 'GC02P038367', 'score': 0.34}, {'connected_gene': 'GC02M038108', 'score': 0.11}]
chr2 GH02I038371 38371950 38372142 0.26 [{'connected_gene': 'RMDN2', 'score': 3.23}, {'connected_gene': 'GC02P038367', 'score': 0.44}, {'connected_gene': 'ATL2', 'score': 0.44}, {'connected_gene': 'GC02M038108', 'score': 0.13}]
chr2 GH02I038091 38091408 38093919 1.14 [{'connected_gene': 'RMDN2', 'score': 4.41}, {'connected_gene': 'CYP1B1', 'score': 0.37}, {'connected_gene': 'CYP1B1-AS1', 'score': 0.37}]
chr2 GH02I037892 37892138 37893650 1.15 [{'connected_gene': 'RMDN2', 'score': 13.17}, {'connected_gene': 'CYP1B1', 'score': 10.56}, {'connected_gene': 'LINC00211', 'score': 10.0}]
chr2 GH02I037891 37891038 37891187 0.69 [{'connected_gene': 'RMDN2', 'score': 11.08}, {'connected_gene': 'CYP1B1', 'score': 10.56}, {'connected_gene': 'LINC00211', 'score': 0.39}]
chr2 GH02I038252 38252272 38252464 0.22 [{'connected_gene': 'RMDN2', 'score': 3.01}, {'connected_gene': 'LOC102723739', 'score': 0.39}, {'connected_gene': 'LOC105374467', 'score': 0.37}, {'connected_gene': 'GC02M038108', 'score': 0.07}]
chr2 GH02I038233 38233206 38234145 0.64 [{'connected_gene': 'RMDN2', 'score': 4.34}, {'connected_gene': 'GC02P038231', 'score': 0.77}, {'connected_gene': 'LOC102723739', 'score': 0.44}, {'connected_gene': 'GC02M038108', 'score': 0.07}]
chr2 GH02I037918 37918379 37921291 0.96 [{'connected_gene': 'RMDN2', 'score': 555.76}, {'connected_gene': 'GC02P037921', 'score': 550.77}, {'connected_gene': 'LINC00211', 'score': 0.26}]
chr2 GH02I037895 37895401 37895600 0.46 [{'connected_gene': 'RMDN2', 'score': 11.25}, {'connected_gene': 'LINC00211', 'score': 9.63}]
chr2 GH02I037916 37916345 37917528 0.54 [{'connected_gene': 'RMDN2', 'score': 0.77}, {'connected_gene': 'LINC00211', 'score': 0.26}]
chr2 GH02I037950 37950415 37950474 0.5 [{'connected_gene': 'RMDN2', 'score': 560.38}, {'connected_gene': 'GC02P037956', 'score': 0.44}, {'connected_gene': 'GC02P037921', 'score': 0.31}, {'connected_gene': 'RMDN2-AS1', 'score': 0.13}]
chr2 GH02I037982 37982150 37982600 0.92 [{'connected_gene': 'RMDN2', 'score': 13.75}, {'connected_gene': 'GC02P037956', 'score': 0.31}, {'connected_gene': 'LOC100419680', 'score': 0.29}, {'connected_gene': 'RMDN2-AS1', 'score': 0.18}]
chr2 GH02I037961 37961997 37962967 0.8 [{'connected_gene': 'RMDN2', 'score': 13.44}, {'connected_gene': 'GC02P037956', 'score': 0.44}, {'connected_gene': 'LOC100419680', 'score': 0.23}, {'connected_gene': 'RMDN2-AS1', 'score': 0.15}]
chr2 GH02I037928 37928201 37928800 1.29 [{'connected_gene': 'RMDN2', 'score': 565.24}, {'connected_gene': 'GC02P037921', 'score': 0.44}, {'connected_gene': 'GC02P037956', 'score': 0.31}]
chr2 GH02I037933 37933706 37936057 0.95 [{'connected_gene': 'RMDN2', 'score': 14.98}, {'connected_gene': 'GC02P037921', 'score': 0.39}, {'connected_gene': 'GC02P037956', 'score': 0.34}]
chr2 GH02I037379 37379583 37380652 0.63 [{'connected_gene': 'RNU6-939P', 'score': 11.14}, {'connected_gene': 'LOC101929542', 'score': 11.01}, {'connected_gene': 'PRKD3', 'score': 11.01}, {'connected_gene': 'CDC42EP3', 'score': 9.36}, {'connected_gene': 'RMDN2', 'score': 9.25}, {'connected_gene': 'CYP1B1', 'score': 9.16}, {'connected_gene': 'QPCT', 'score': 0.28}, {'connected_gene': 'GC02P037427', 'score': 0.26}]
chr2 GH02I037535 37535601 37536947 1.19 [{'connected_gene': 'CDC42EP3', 'score': 4.86}, {'connected_gene': 'EIF2AK2', 'score': 2.57}, {'connected_gene': 'RMDN2', 'score': 1.57}, {'connected_gene': 'GC02M037562', 'score': 0.31}, {'connected_gene': 'LOC105374464', 'score': 0.18}, {'connected_gene': 'GC02P037427', 'score': 0.14}]
chr2 GH02I037985 37985416 37985617 0.53 [{'connected_gene': 'CDC42EP3', 'score': 1.85}, {'connected_gene': 'CYP1B1', 'score': 1.64}, {'connected_gene': 'GC02P037956', 'score': 0.31}, {'connected_gene': 'LOC100419680', 'score': 0.29}, {'connected_gene': 'RMDN2', 'score': 0.21}, {'connected_gene': 'RMDN2-AS1', 'score': 0.18}]
chr2 GH02I037533 37533328 37533455 0.46 [{'connected_gene': 'LOC105374464', 'score': 11.33}, {'connected_gene': 'ENSG00000272054', 'score': 10.95}, {'connected_gene': 'CDC42EP3', 'score': 2.28}, {'connected_gene': 'SULT6B1', 'score': 1.77}, {'connected_gene': 'RMDN2', 'score': 1.7}, {'connected_gene': 'GC02M037562', 'score': 0.31}, {'connected_gene': 'GC02P037427', 'score': 0.14}]
chr2 GH02I037903 37903401 37905600 0.2 [{'connected_gene': 'LINC00211', 'score': 10.29}, {'connected_gene': 'CYP1B1', 'score': 9.88}, {'connected_gene': 'RMDN2', 'score': 0.37}]
chr2 GH02I037877 37877401 37877900 0.89 [{'connected_gene': 'LINC00211', 'score': 567.5}, {'connected_gene': 'RNU6-939P', 'score': 10.08}, {'connected_gene': 'RMDN2', 'score': 0.26}]
chr2 GH02I037876 37876206 37877340 0.54 [{'connected_gene': 'LINC00211', 'score': 567.48}, {'connected_gene': 'RNU6-939P', 'score': 10.08}, {'connected_gene': 'RMDN2', 'score': 0.26}]
chr2 GH02I038067 38067692 38068973 0.38 [{'connected_gene': 'RMDN2-AS1', 'score': 550.77}, {'connected_gene': 'CYP1B1', 'score': 10.83}, {'connected_gene': 'CYP1B1-AS1', 'score': 0.44}, {'connected_gene': 'RMDN2', 'score': 0.11}]
chr2 GH02I038066 38066598 38066747 0.4 [{'connected_gene': 'RMDN2-AS1', 'score': 550.77}, {'connected_gene': 'CYP1B1', 'score': 10.83}, {'connected_gene': 'LOC100419680', 'score': 0.23}, {'connected_gene': 'RMDN2', 'score': 0.11}]
chr2 GH02I038016 38016265 38016636 0.39 [{'connected_gene': 'LOC100419680', 'score': 550.77}, {'connected_gene': 'RMDN2', 'score': 15.91}, {'connected_gene': 'CYP1B1', 'score': 10.67}, {'connected_gene': 'CDC42EP3', 'score': 1.38}, {'connected_gene': 'RMDN2-AS1', 'score': 0.23}]
chr2 GH02I037992 37992764 37992817 0.24 [{'connected_gene': 'LOC100419680', 'score': 0.34}, {'connected_gene': 'GC02P037956', 'score': 0.28}, {'connected_gene': 'RMDN2-AS1', 'score': 0.19}, {'connected_gene': 'RMDN2', 'score': 0.19}]
chr2 GH02I038194 38194859 38195210 0.62 [{'connected_gene': 'ENSG00000273006', 'score': 550.77}, {'connected_gene': 'CYP1B1', 'score': 12.51}, {'connected_gene': 'RNU6-951P', 'score': 10.91}, {'connected_gene': 'CYP1B1-AS1', 'score': 4.45}, {'connected_gene': 'RMDN2', 'score': 2.69}, {'connected_gene': 'RPL7P12', 'score': 0.28}, {'connected_gene': 'LOC102723739', 'score': 0.26}, {'connected_gene': 'GC02M038108', 'score': 0.06}]

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