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
ENST00000602866 [[47440319, 47440496], [47440666, 47440748], [47441814, 47441960], [47442181, 47442278], [47444124, 47444273], [47444380, 47444524], [47445596, 47445734], [47445979, 47446042], [47446157, 47446262], [47446671, 47446797], [47447417, 47447501], [47447755, 47447817]] [[47440385, 47440496], [47440666, 47440748], [47441814, 47441960], [47442181, 47442278], [47444124, 47444273], [47444380, 47444524], [47445596, 47445734], [47445979, 47446042], [47446157, 47446262], [47446671, 47446797], [47447417, 47447501], [47447755, 47447782]]
ENST00000298852 [[47440319, 47440496], [47440666, 47440748], [47441814, 47441960], [47442181, 47442278], [47444124, 47444273], [47444380, 47444524], [47445596, 47445734], [47445979, 47446042], [47446157, 47446262], [47446671, 47446797], [47447417, 47447501], [47447755, 47447988]] [[47440385, 47440496], [47440666, 47440748], [47441814, 47441960], [47442181, 47442278], [47444124, 47444273], [47444380, 47444524], [47445596, 47445734], [47445979, 47446042], [47446157, 47446262], [47446671, 47446797], [47447417, 47447501], [47447755, 47447830]]
ENST00000530912 [[47440352, 47440496], [47440666, 47440748], [47441814, 47441960], [47442181, 47442278], [47444124, 47444273], [47444380, 47444524], [47445596, 47445734], [47445979, 47446042], [47446157, 47446262], [47447417, 47447501], [47447755, 47447993]] [[47440385, 47440496], [47440666, 47440748], [47441814, 47441960], [47442181, 47442278], [47444124, 47444273], [47444380, 47444524], [47445596, 47445734], [47445979, 47446042], [47446157, 47446262], [47447417, 47447501], [47447755, 47447830]]
ENST00000524447 [[47441889, 47441960], [47442181, 47442278], [47444124, 47444273], [47444380, 47444524], [47445659, 47445734], [47445979, 47446042], [47446157, 47446262], [47446671, 47446797], [47447417, 47447501], [47447755, 47447776]] [[47441889, 47441960], [47442181, 47442278], [47444124, 47444273], [47444380, 47444524], [47445659, 47445734], [47445979, 47446042], [47446157, 47446262], [47446671, 47446797], [47447417, 47447501], [47447755, 47447776]]
ENST00000530887 [[47444124, 47444273], [47444380, 47444524], [47445596, 47445734], [47445979, 47446042], [47446157, 47446262], [47446671, 47446797], [47447417, 47447501], [47447667, 47447749]] [[47447424, 47447501], [47447667, 47447749]]
ENST00000530651 [[47444124, 47444273], [47444380, 47444524], [47445596, 47445734], [47445979, 47446042], [47446157, 47446262], [47446671, 47446797], [47447417, 47447497], [47447667, 47447767]] [[47444124, 47444273], [47444380, 47444524], [47445596, 47445734], [47445979, 47446042], [47446157, 47446262], [47446671, 47446797], [47447417, 47447497], [47447667, 47447767]]
ENST00000531051 [[47444124, 47444273], [47444380, 47444524], [47445596, 47445734], [47446157, 47446262], [47446671, 47446797], [47447417, 47447501], [47447755, 47447786]] [[47444124, 47444273], [47444380, 47444524], [47445596, 47445734], [47446157, 47446262], [47446671, 47446797], [47447417, 47447501], [47447755, 47447786]]
ENST00000527906 [[47444483, 47444524], [47445596, 47445734], [47445979, 47446042], [47446157, 47446262], [47446671, 47446797], [47447417, 47447497], [47447755, 47447806]] [[47446790, 47446797], [47447417, 47447497], [47447755, 47447806]]
ENST00000526993 [[47445658, 47445734], [47445979, 47446042], [47446157, 47446262], [47446671, 47446797], [47447417, 47447501], [47447683, 47447809]] [[47445658, 47445734], [47445979, 47446042], [47446157, 47446262], [47446671, 47446797], [47447417, 47447501], [47447683, 47447809]]
ENST00000531653 [[47445914, 47446042], [47446157, 47446262], [47446671, 47446797], [47447417, 47447501], [47447755, 47447810]] None
ENST00000528362 [[47445973, 47446262], [47446671, 47446797], [47447417, 47447501], [47447755, 47447802]] None
ENST00000529500 [[47446989, 47447501], [47447755, 47447806]] None
NM_002804 [[47440319, 47440496], [47440666, 47440748], [47441814, 47441960], [47442181, 47442278], [47444124, 47444273], [47444380, 47444524], [47445596, 47445734], [47445979, 47446042], [47446157, 47446262], [47446671, 47446797], [47447417, 47447501], [47447755, 47448024]] [[47440385, 47440496], [47440666, 47440748], [47441814, 47441960], [47442181, 47442278], [47444124, 47444273], [47444380, 47444524], [47445596, 47445734], [47445979, 47446042], [47446157, 47446262], [47446671, 47446797], [47447417, 47447501], [47447755, 47447830]]
Promoter
Chrom Start End Description
chr11 47447784 47447817 CAGE_peak_1_at_PSMC3_5end
chr11 47447970 47448029 CAGE_peak_2_at_PSMC3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I047441 47441509 47441658 0.31 [{'connected_gene': 'SLC39A13', 'score': 12.04}, {'connected_gene': 'ENSG00000255197', 'score': 12.04}, {'connected_gene': 'LOC101928943', 'score': 10.62}, {'connected_gene': 'MADD', 'score': 10.61}, {'connected_gene': 'NR1H3', 'score': 10.6}, {'connected_gene': 'MTCH2', 'score': 9.64}, {'connected_gene': 'RAPSN', 'score': 0.44}, {'connected_gene': 'PSMC3', 'score': 0.37}]
chr11 GH11I047373 47373530 47379754 2.59 [{'connected_gene': 'SPI1', 'score': 563.15}, {'connected_gene': 'GC11M054465', 'score': 550.77}, {'connected_gene': 'FNBP4', 'score': 55.09}, {'connected_gene': 'NUP160', 'score': 50.05}, {'connected_gene': 'ENSG00000200090', 'score': 47.35}, {'connected_gene': 'ENSG00000270060', 'score': 27.48}, {'connected_gene': 'C1QTNF4', 'score': 26.76}, {'connected_gene': 'SLC39A13', 'score': 23.24}, {'connected_gene': 'PSMC3', 'score': 18.4}, {'connected_gene': 'DDB2', 'score': 15.31}, {'connected_gene': 'RPS10P19', 'score': 13.13}, {'connected_gene': 'ENSG00000255197', 'score': 12.49}, {'connected_gene': 'MDK', 'score': 11.87}, {'connected_gene': 'MYBPC3', 'score': 11.76}, {'connected_gene': 'CELF1', 'score': 9.59}, {'connected_gene': 'ACP2', 'score': 8.12}, {'connected_gene': 'MADD', 'score': 6.28}, {'connected_gene': 'PACSIN3', 'score': 4.35}, {'connected_gene': 'PTPRJ', 'score': 4.12}, {'connected_gene': 'GC11P047369', 'score': 0.44}]
chr11 GH11I047387 47387801 47396617 1.68 [{'connected_gene': 'SPI1', 'score': 45.23}, {'connected_gene': 'C1QTNF4', 'score': 26.62}, {'connected_gene': 'MYBPC3', 'score': 11.77}, {'connected_gene': 'FNBP4', 'score': 10.85}, {'connected_gene': 'CELF1', 'score': 8.78}, {'connected_gene': 'ENSG00000255197', 'score': 6.8}, {'connected_gene': 'PSMC3', 'score': 6.21}, {'connected_gene': 'LRP4', 'score': 5.17}, {'connected_gene': 'MADD', 'score': 2.05}, {'connected_gene': 'GC11M054465', 'score': 0.39}]
chr11 GH11I047434 47434590 47434679 0.62 [{'connected_gene': 'RAPSN', 'score': 8.13}, {'connected_gene': 'PSMC3', 'score': 0.44}]
chr11 GH11I047447 47447801 47449770 1.16 [{'connected_gene': 'RAPSN', 'score': 558.5}, {'connected_gene': 'FNBP4', 'score': 8.18}, {'connected_gene': 'PSMC3', 'score': 6.29}]
chr11 GH11I047424 47424323 47428059 2.26 [{'connected_gene': 'PSMC3', 'score': 557.24}, {'connected_gene': 'C1QTNF4', 'score': 37.14}, {'connected_gene': 'FNBP4', 'score': 21.3}, {'connected_gene': 'NUP160', 'score': 14.58}, {'connected_gene': 'ENSG00000270060', 'score': 13.51}, {'connected_gene': 'MADD', 'score': 11.4}, {'connected_gene': 'ARFGAP2', 'score': 11.16}, {'connected_gene': 'C11orf49', 'score': 10.9}, {'connected_gene': 'ZNF408', 'score': 10.62}, {'connected_gene': 'DDB2', 'score': 10.41}, {'connected_gene': 'KBTBD4', 'score': 9.97}, {'connected_gene': 'ACP2', 'score': 7.93}, {'connected_gene': 'ENSG00000255197', 'score': 6.8}, {'connected_gene': 'PTPRJ', 'score': 4.1}, {'connected_gene': 'GC11M054844', 'score': 0.44}, {'connected_gene': 'GC11M055365', 'score': 0.44}]
chr11 GH11I047331 47331462 47332661 0.4 [{'connected_gene': 'ACP2', 'score': 12.91}, {'connected_gene': 'SLC39A13', 'score': 12.19}, {'connected_gene': 'ENSG00000255197', 'score': 12.19}, {'connected_gene': 'PSMC3', 'score': 12.16}, {'connected_gene': 'LOC101928943', 'score': 10.97}, {'connected_gene': 'MADD', 'score': 10.95}, {'connected_gene': 'NR1H3', 'score': 10.92}, {'connected_gene': 'ENSG00000283338', 'score': 0.44}, {'connected_gene': 'GC11P047345', 'score': 0.39}, {'connected_gene': 'MYBPC3', 'score': 0.34}]
chr11 GH11I047764 47764763 47769512 2.59 [{'connected_gene': 'FNBP4', 'score': 584.69}, {'connected_gene': 'NUP160', 'score': 46.88}, {'connected_gene': 'ENSG00000270060', 'score': 21.55}, {'connected_gene': 'DDB2', 'score': 20.63}, {'connected_gene': 'C1QTNF4', 'score': 20.39}, {'connected_gene': 'ENSG00000200090', 'score': 11.45}, {'connected_gene': 'KBTBD4', 'score': 10.09}, {'connected_gene': 'PSMC3', 'score': 6.71}, {'connected_gene': 'PTPRJ', 'score': 5.28}, {'connected_gene': 'ACP2', 'score': 4.42}, {'connected_gene': 'CELF1', 'score': 2.68}, {'connected_gene': 'SPI1', 'score': 2.03}, {'connected_gene': 'GC11M055379', 'score': 0.28}]
chr11 GH11I047912 47912253 47925411 1.74 [{'connected_gene': 'NUP160', 'score': 26.32}, {'connected_gene': 'KBTBD4', 'score': 17.88}, {'connected_gene': 'PTPRJ', 'score': 16.54}, {'connected_gene': 'FNBP4', 'score': 15.99}, {'connected_gene': 'C1QTNF4', 'score': 15.81}, {'connected_gene': 'MADD', 'score': 14.68}, {'connected_gene': 'ENSG00000270060', 'score': 11.88}, {'connected_gene': 'PTPRJ-AS1', 'score': 11.32}, {'connected_gene': 'DDB2', 'score': 11.3}, {'connected_gene': 'ARFGAP2', 'score': 11.11}, {'connected_gene': 'ENSG00000200090', 'score': 10.32}, {'connected_gene': 'MYBPC3', 'score': 10.15}, {'connected_gene': 'ACP2', 'score': 6.5}, {'connected_gene': 'PSMC3', 'score': 6.0}, {'connected_gene': 'ENSG00000256897', 'score': 5.47}, {'connected_gene': 'FAM180B', 'score': 5.05}, {'connected_gene': 'PACSIN3', 'score': 4.79}, {'connected_gene': 'OR4X1', 'score': 4.45}, {'connected_gene': 'OR4B1', 'score': 1.92}, {'connected_gene': 'OR4C3', 'score': 1.55}, {'connected_gene': 'OR4S1', 'score': 1.33}, {'connected_gene': 'LOC100287189', 'score': 0.39}, {'connected_gene': 'PIR55104', 'score': 0.28}]
chr11 GH11I047437 47437403 47438530 0.74 [{'connected_gene': 'C1QTNF4', 'score': 26.11}, {'connected_gene': 'RAPSN', 'score': 8.56}, {'connected_gene': 'PSMC3', 'score': 6.84}]
chr11 GH11I047432 47432710 47433697 0.43 [{'connected_gene': 'C1QTNF4', 'score': 26.15}, {'connected_gene': 'RAPSN', 'score': 8.1}, {'connected_gene': 'ACP2', 'score': 7.75}, {'connected_gene': 'ENSG00000255197', 'score': 6.74}, {'connected_gene': 'PTPRJ', 'score': 4.1}, {'connected_gene': 'PSMC3', 'score': 0.44}]
chr11 GH11I047474 47474056 47475810 0.2 [{'connected_gene': 'C1QTNF4', 'score': 42.44}, {'connected_gene': 'RAPSN', 'score': 12.13}, {'connected_gene': 'PTPMT1', 'score': 11.68}, {'connected_gene': 'CELF1', 'score': 11.68}, {'connected_gene': 'NDUFS3', 'score': 11.68}, {'connected_gene': 'SLC39A13', 'score': 10.81}, {'connected_gene': 'ENSG00000231880', 'score': 10.45}, {'connected_gene': 'RNU5E-10P', 'score': 10.45}, {'connected_gene': 'MTCH2', 'score': 9.99}, {'connected_gene': 'PSMC3', 'score': 6.3}, {'connected_gene': 'GC11M055362', 'score': 0.44}, {'connected_gene': 'GC11P047482', 'score': 0.44}]
chr11 GH11I047371 47371471 47373184 0.43 [{'connected_gene': 'C1QTNF4', 'score': 26.5}, {'connected_gene': 'ENSG00000255197', 'score': 18.91}, {'connected_gene': 'PSMC3', 'score': 18.37}, {'connected_gene': 'SLC39A13', 'score': 12.49}, {'connected_gene': 'MTCH2', 'score': 9.41}, {'connected_gene': 'GC11P047369', 'score': 0.77}, {'connected_gene': 'GC11M054465', 'score': 0.44}, {'connected_gene': 'SPI1', 'score': 0.34}]
chr11 GH11I047430 47430688 47431927 0.73 [{'connected_gene': 'C1QTNF4', 'score': 7.85}, {'connected_gene': 'PSMC3', 'score': 0.77}, {'connected_gene': 'RAPSN', 'score': 0.37}]
chr11 GH11I047397 47397783 47399098 0.43 [{'connected_gene': 'C1QTNF4', 'score': 25.05}, {'connected_gene': 'PSMC3', 'score': 13.01}, {'connected_gene': 'ENSG00000255197', 'score': 6.83}, {'connected_gene': 'MIR4487', 'score': 0.77}, {'connected_gene': 'SPI1', 'score': 0.77}]
chr11 GH11I047543 47543036 47544991 0.2 [{'connected_gene': 'C1QTNF4', 'score': 28.79}, {'connected_gene': 'FNBP4', 'score': 8.21}, {'connected_gene': 'PSMC3', 'score': 6.57}, {'connected_gene': 'PACSIN3', 'score': 5.72}, {'connected_gene': 'NR1H3', 'score': 4.98}, {'connected_gene': 'PTPRJ', 'score': 4.11}, {'connected_gene': 'RN7SL652P', 'score': 0.39}, {'connected_gene': 'CELF1', 'score': 0.34}, {'connected_gene': 'ENSG00000270072', 'score': 0.31}, {'connected_gene': 'GC11M055376', 'score': 0.25}, {'connected_gene': 'GC11P047482', 'score': 0.21}]
chr11 GH11I047399 47399528 47401993 1.9 [{'connected_gene': 'MIR4487', 'score': 550.77}, {'connected_gene': 'SPI1', 'score': 21.06}, {'connected_gene': 'PSMC3', 'score': 13.01}, {'connected_gene': 'FNBP4', 'score': 9.23}, {'connected_gene': 'ENSG00000255197', 'score': 6.85}, {'connected_gene': 'MADD', 'score': 5.86}, {'connected_gene': 'C11orf49', 'score': 4.21}, {'connected_gene': 'CELF1', 'score': 3.14}]
chr11 GH11I047406 47406866 47411141 2.29 [{'connected_gene': 'ENSG00000255197', 'score': 557.21}, {'connected_gene': 'SLC39A13', 'score': 550.77}, {'connected_gene': 'C1QTNF4', 'score': 24.58}, {'connected_gene': 'FNBP4', 'score': 9.9}, {'connected_gene': 'PSMC3', 'score': 6.31}]
chr11 GH11I047506 47506363 47520799 1.69 [{'connected_gene': 'ENSG00000270072', 'score': 550.77}, {'connected_gene': 'NUP160', 'score': 136.21}, {'connected_gene': 'FNBP4', 'score': 131.13}, {'connected_gene': 'ENSG00000200090', 'score': 121.72}, {'connected_gene': 'ENSG00000270060', 'score': 63.55}, {'connected_gene': 'C1QTNF4', 'score': 43.68}, {'connected_gene': 'ZNF408', 'score': 41.66}, {'connected_gene': 'DDB2', 'score': 41.31}, {'connected_gene': 'AMBRA1', 'score': 38.83}, {'connected_gene': 'CELF1', 'score': 32.97}, {'connected_gene': 'SLC39A13', 'score': 30.17}, {'connected_gene': 'AGBL2', 'score': 20.91}, {'connected_gene': 'ARFGAP2', 'score': 18.43}, {'connected_gene': 'PTPMT1', 'score': 12.17}, {'connected_gene': 'NDUFS3', 'score': 12.17}, {'connected_gene': 'ARHGAP1', 'score': 12.06}, {'connected_gene': 'FAM180B', 'score': 11.72}, {'connected_gene': 'KBTBD4', 'score': 11.43}, {'connected_gene': 'ENSG00000231880', 'score': 11.18}, {'connected_gene': 'RNU5E-10P', 'score': 11.18}, {'connected_gene': 'MTCH2', 'score': 10.4}, {'connected_gene': 'LRP4-AS1', 'score': 9.75}, {'connected_gene': 'PTPRJ', 'score': 7.95}, {'connected_gene': 'PSMC3', 'score': 6.61}, {'connected_gene': 'SPI1', 'score': 4.72}, {'connected_gene': 'GC11P047482', 'score': 0.29}]
chr11 GH11I047412 47412984 47418085 1.23 [{'connected_gene': 'GC11M054844', 'score': 550.77}, {'connected_gene': 'GC11M055365', 'score': 550.77}, {'connected_gene': 'C1QTNF4', 'score': 26.97}, {'connected_gene': 'PSMC3', 'score': 6.34}, {'connected_gene': 'PTPRJ', 'score': 4.1}, {'connected_gene': 'ENSG00000255197', 'score': 0.44}, {'connected_gene': 'SLC39A13', 'score': 0.44}]

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