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
ENST00000533076 [[47428682, 47429084], [47431637, 47431946], [47433476, 47433590], [47433896, 47434018], [47434950, 47435058], [47435147, 47435237], [47435975, 47436026], [47436327, 47436456], [47436610, 47436710], [47436838, 47437047], [47437875, 47438046]] [[47431645, 47431946], [47433476, 47433590], [47433896, 47434018], [47434950, 47435058], [47435147, 47435237], [47435975, 47436026], [47436327, 47436456], [47436610, 47436673]]
ENST00000531974 [[47430134, 47430213], [47431637, 47431946], [47433476, 47433944]] [[47431645, 47431946], [47433476, 47433598]]
ENST00000531419 [[47430155, 47430213], [47431637, 47431946], [47433476, 47433590], [47433896, 47434018], [47435147, 47435329]] [[47431645, 47431946], [47433476, 47433590], [47433896, 47434018], [47435147, 47435264]]
ENST00000531865 [[47430178, 47430213], [47431637, 47431946], [47433476, 47433590], [47433896, 47434018], [47435147, 47435237], [47435975, 47436026], [47436327, 47436452]] [[47431645, 47431946], [47433476, 47433590], [47433896, 47434018], [47435147, 47435237], [47435975, 47436026], [47436327, 47436425]]
ENST00000362021 [[47430179, 47430213], [47431637, 47431946], [47433476, 47433590], [47433896, 47434018], [47434950, 47435058], [47435147, 47435237], [47435975, 47436026], [47436327, 47436460], [47436589, 47436710], [47436838, 47438047]] [[47431645, 47431946], [47433476, 47433590], [47433896, 47434018], [47434950, 47435058], [47435147, 47435237], [47435975, 47436026], [47436327, 47436460], [47436589, 47436710], [47436838, 47436914]]
ENST00000354884 [[47430181, 47430213], [47431616, 47431946], [47433476, 47433590], [47433896, 47434018], [47434950, 47435058], [47435147, 47435237], [47435975, 47436026], [47436327, 47436460], [47436610, 47436710], [47436838, 47438047]] [[47431645, 47431946], [47433476, 47433590], [47433896, 47434018], [47434950, 47435058], [47435147, 47435237], [47435975, 47436026], [47436327, 47436460], [47436610, 47436710], [47436838, 47436914]]
ENST00000526614 [[47431141, 47431214], [47431637, 47431946], [47433476, 47433590], [47433896, 47434018], [47434950, 47435058], [47435147, 47435248]] [[47431645, 47431946], [47433476, 47433590], [47433896, 47434018], [47434950, 47435058], [47435147, 47435248]]
ENST00000527091 [[47431371, 47431516], [47431637, 47431946], [47433476, 47433590]] [[47431645, 47431946], [47433476, 47433590]]
ENST00000524928 [[47431635, 47431946], [47433476, 47433590], [47433896, 47434018], [47434950, 47435058], [47435147, 47438045]] [[47431645, 47431946], [47433476, 47433590], [47433896, 47434018], [47434950, 47435058], [47435147, 47435468]]
ENST00000529740 [[47433852, 47434018], [47434950, 47435058], [47435147, 47435431]] None
ENST00000528979 [[47435846, 47436026], [47436327, 47436646]] None
ENST00000527829 [[47435987, 47436026], [47436327, 47436460], [47436610, 47436967]] None
ENST00000524886 [[47436412, 47436710], [47436838, 47436985]] None
NR_134854 [[47428826, 47429084], [47431637, 47431946], [47433476, 47433590], [47433896, 47434018], [47434950, 47435058], [47435147, 47435237], [47435975, 47436026], [47436327, 47436456], [47436610, 47436710], [47436838, 47437047], [47437875, 47438051]] None
NM_001128225 [[47430045, 47430213], [47431637, 47431946], [47433476, 47433590], [47433896, 47434018], [47434950, 47435058], [47435147, 47435237], [47435975, 47436026], [47436327, 47436460], [47436589, 47436710], [47436838, 47438051]] [[47431645, 47431946], [47433476, 47433590], [47433896, 47434018], [47434950, 47435058], [47435147, 47435237], [47435975, 47436026], [47436327, 47436460], [47436589, 47436710], [47436838, 47436914]]
NM_152264 [[47430045, 47430213], [47431616, 47431946], [47433476, 47433590], [47433896, 47434018], [47434950, 47435058], [47435147, 47435237], [47435975, 47436026], [47436327, 47436460], [47436610, 47436710], [47436838, 47438051]] [[47431645, 47431946], [47433476, 47433590], [47433896, 47434018], [47434950, 47435058], [47435147, 47435237], [47435975, 47436026], [47436327, 47436460], [47436610, 47436710], [47436838, 47436914]]
NM_001330245 [[47430050, 47430213], [47431637, 47431946], [47433476, 47433590], [47433896, 47434018], [47434950, 47435058], [47435147, 47435237], [47435975, 47436026], [47436327, 47436456], [47436610, 47436710], [47436838, 47438052]] [[47431645, 47431946], [47433476, 47433590], [47433896, 47434018], [47434950, 47435058], [47435147, 47435237], [47435975, 47436026], [47436327, 47436456], [47436610, 47436673]]
Promoter
Chrom Start End Description
chr11 47376896 47376942 CAGE_peak_4_at_SLC39A13_5end
chr11 47376960 47377037 CAGE_peak_3_at_SLC39A13_5end
chr11 47430019 47430027 CAGE_peak_6_at_SLC39A13_5end
chr11 47430033 47430080 CAGE_peak_2_at_SLC39A13_5end
chr11 47430133 47430187 CAGE_peak_1_at_SLC39A13_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 GH11I047267 47267654 47273034 2.29 [{'connected_gene': 'MADD', 'score': 559.24}, {'connected_gene': 'LOC101928943', 'score': 550.77}, {'connected_gene': 'FNBP4', 'score': 57.07}, {'connected_gene': 'NUP160', 'score': 51.23}, {'connected_gene': 'ENSG00000270060', 'score': 44.49}, {'connected_gene': 'ENSG00000200090', 'score': 34.41}, {'connected_gene': 'DDB2', 'score': 33.93}, {'connected_gene': 'ACP2', 'score': 27.55}, {'connected_gene': 'RPS10P19', 'score': 23.16}, {'connected_gene': 'PACSIN3', 'score': 20.65}, {'connected_gene': 'ZNF408', 'score': 18.9}, {'connected_gene': 'NR1H3', 'score': 12.07}, {'connected_gene': 'ARFGAP2', 'score': 10.61}, {'connected_gene': 'SLC39A13', 'score': 10.58}, {'connected_gene': 'MYBPC3', 'score': 6.81}]
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 GH11I047943 47943700 47945293 1.48 [{'connected_gene': 'PTPRJ', 'score': 12.44}, {'connected_gene': 'PTPRJ-AS1', 'score': 12.08}, {'connected_gene': 'C1QTNF4', 'score': 7.64}, {'connected_gene': 'SLC39A13', 'score': 5.07}, {'connected_gene': 'PACSIN3', 'score': 5.06}, {'connected_gene': 'MYBPC3', 'score': 4.05}, {'connected_gene': 'PIR55104', 'score': 0.39}, {'connected_gene': 'LOC100287189', 'score': 0.28}]
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 GH11I047225 47225601 47226200 0.46 [{'connected_gene': 'ACP2', 'score': 13.77}, {'connected_gene': 'RPS20P26', 'score': 12.0}, {'connected_gene': 'PACSIN3', 'score': 11.98}, {'connected_gene': 'NR1H3', 'score': 11.66}, {'connected_gene': 'MADD', 'score': 11.58}, {'connected_gene': 'LOC101928943', 'score': 11.57}, {'connected_gene': 'ARFGAP2', 'score': 11.15}, {'connected_gene': 'SLC39A13', 'score': 10.16}, {'connected_gene': 'ENSG00000256897', 'score': 0.77}, {'connected_gene': 'DDB2', 'score': 0.39}]
chr11 GH11I047465 47465397 47465751 0.4 [{'connected_gene': 'MYBPC3', 'score': 11.59}, {'connected_gene': 'SLC39A13', 'score': 11.34}, {'connected_gene': 'NDUFS3', 'score': 11.15}, {'connected_gene': 'C1QTNF4', 'score': 10.81}, {'connected_gene': 'ENSG00000231880', 'score': 10.44}, {'connected_gene': 'RNU5E-10P', 'score': 10.44}, {'connected_gene': 'MTCH2', 'score': 10.26}, {'connected_gene': 'AGBL2', 'score': 9.39}, {'connected_gene': 'GC11M055362', 'score': 0.77}, {'connected_gene': 'RAPSN', 'score': 0.37}]
chr11 GH11I047305 47305810 47305959 0.2 [{'connected_gene': 'MYBPC3', 'score': 11.97}, {'connected_gene': 'NR1H3', 'score': 11.34}, {'connected_gene': 'ACP2', 'score': 11.34}, {'connected_gene': 'SLC39A13', 'score': 11.12}, {'connected_gene': 'LOC101928943', 'score': 11.04}, {'connected_gene': 'MADD', 'score': 11.03}, {'connected_gene': 'ARFGAP2', 'score': 10.89}, {'connected_gene': 'PACSIN3', 'score': 10.89}, {'connected_gene': 'RAPSN', 'score': 10.51}, {'connected_gene': 'MTCH2', 'score': 10.09}, {'connected_gene': 'ENSG00000283338', 'score': 0.37}]
chr11 GH11I047329 47329401 47330899 0.83 [{'connected_gene': 'PACSIN3', 'score': 19.13}, {'connected_gene': 'ACP2', 'score': 15.46}, {'connected_gene': 'MYBPC3', 'score': 12.48}, {'connected_gene': 'SLC39A13', 'score': 11.6}, {'connected_gene': 'LOC101928943', 'score': 11.08}, {'connected_gene': 'MADD', 'score': 11.07}, {'connected_gene': 'NR1H3', 'score': 11.04}, {'connected_gene': 'FNBP4', 'score': 10.36}, {'connected_gene': 'ARFGAP2', 'score': 10.12}, {'connected_gene': 'ENSG00000283338', 'score': 0.44}, {'connected_gene': 'GC11P047345', 'score': 0.39}]
chr11 GH11I048021 48021424 48022148 0.79 [{'connected_gene': 'NUP160', 'score': 136.03}, {'connected_gene': 'FNBP4', 'score': 126.23}, {'connected_gene': 'ENSG00000200090', 'score': 123.1}, {'connected_gene': 'ENSG00000270060', 'score': 63.52}, {'connected_gene': 'DDB2', 'score': 41.27}, {'connected_gene': 'ARFGAP2', 'score': 27.74}, {'connected_gene': 'SLC39A13', 'score': 19.9}, {'connected_gene': 'CELF1', 'score': 11.89}, {'connected_gene': 'MADD', 'score': 11.32}, {'connected_gene': 'KBTBD4', 'score': 9.9}, {'connected_gene': 'PIR62326', 'score': 0.44}, {'connected_gene': 'PTPRJ-AS1', 'score': 0.44}, {'connected_gene': 'PTPRJ', 'score': 0.26}]
chr11 GH11I047354 47354601 47356263 1.44 [{'connected_gene': 'NUP160', 'score': 48.83}, {'connected_gene': 'FNBP4', 'score': 34.94}, {'connected_gene': 'ENSG00000200090', 'score': 32.03}, {'connected_gene': 'C1QTNF4', 'score': 26.73}, {'connected_gene': 'ENSG00000270060', 'score': 19.73}, {'connected_gene': 'AMBRA1', 'score': 19.24}, {'connected_gene': 'RPS10P19', 'score': 19.22}, {'connected_gene': 'DDB2', 'score': 14.24}, {'connected_gene': 'ZNF408', 'score': 13.46}, {'connected_gene': 'SLC39A13', 'score': 13.06}, {'connected_gene': 'ARHGAP1', 'score': 12.06}, {'connected_gene': 'C11orf49', 'score': 10.78}, {'connected_gene': 'MADD', 'score': 6.02}, {'connected_gene': 'MYBPC3', 'score': 0.77}, {'connected_gene': 'GC11P047369', 'score': 0.39}, {'connected_gene': 'GC11P047345', 'score': 0.39}, {'connected_gene': 'SPI1', 'score': 0.26}]
chr11 GH11I047466 47465774 47467825 1.04 [{'connected_gene': 'C1QTNF4', 'score': 18.4}, {'connected_gene': 'SLC39A13', 'score': 10.82}, {'connected_gene': 'GC11M055362', 'score': 0.77}, {'connected_gene': 'RAPSN', 'score': 0.37}, {'connected_gene': 'CELF1', 'score': 0.15}]
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 GH11I047277 47277202 47278459 1.05 [{'connected_gene': 'NR1H3', 'score': 11.96}, {'connected_gene': 'ACP2', 'score': 11.96}, {'connected_gene': 'SLC39A13', 'score': 11.85}, {'connected_gene': 'PACSIN3', 'score': 11.16}, {'connected_gene': 'ARFGAP2', 'score': 11.15}, {'connected_gene': 'FNBP4', 'score': 9.78}, {'connected_gene': 'MADD', 'score': 0.44}, {'connected_gene': 'LOC101928943', 'score': 0.44}, {'connected_gene': 'ENSG00000283338', 'score': 0.25}]
chr11 GH11I047468 47468740 47468976 0.99 [{'connected_gene': 'GC11M055362', 'score': 550.77}, {'connected_gene': 'SLC39A13', 'score': 10.81}, {'connected_gene': 'C1QTNF4', 'score': 10.81}, {'connected_gene': 'RAPSN', 'score': 0.37}, {'connected_gene': 'CELF1', 'score': 0.15}]
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 GH11I047470 47470315 47471276 0.31 [{'connected_gene': 'GC11M055362', 'score': 550.77}, {'connected_gene': 'SLC39A13', 'score': 10.81}, {'connected_gene': 'C1QTNF4', 'score': 10.8}, {'connected_gene': 'GC11P047482', 'score': 0.39}, {'connected_gene': 'CELF1', 'score': 0.16}]
chr11 GH11I047469 47469569 47469778 0.69 [{'connected_gene': 'GC11M055362', 'score': 550.77}, {'connected_gene': 'SLC39A13', 'score': 10.81}, {'connected_gene': 'C1QTNF4', 'score': 10.8}, {'connected_gene': 'GC11P047482', 'score': 0.39}, {'connected_gene': 'CELF1', 'score': 0.15}]
chr11 GH11I047411 47411693 47412939 0.68 [{'connected_gene': 'ENSG00000255197', 'score': 6.84}, {'connected_gene': 'GC11M054844', 'score': 0.77}, {'connected_gene': 'GC11M055365', 'score': 0.77}, {'connected_gene': 'SLC39A13', 'score': 0.44}]
chr11 GH11I047996 47996587 48021199 1.73 [{'connected_gene': 'ENSG00000200090', 'score': 50.06}, {'connected_gene': 'FNBP4', 'score': 46.59}, {'connected_gene': 'NUP160', 'score': 40.05}, {'connected_gene': 'PTPRJ', 'score': 35.55}, {'connected_gene': 'MADD', 'score': 12.5}, {'connected_gene': 'ENSG00000270060', 'score': 11.71}, {'connected_gene': 'DDB2', 'score': 10.69}, {'connected_gene': 'SLC39A13', 'score': 10.66}, {'connected_gene': 'MYBPC3', 'score': 8.75}, {'connected_gene': 'CELF1', 'score': 8.42}, {'connected_gene': 'ACP2', 'score': 6.3}, {'connected_gene': 'C1QTNF4', 'score': 5.82}, {'connected_gene': 'ENSG00000255520', 'score': 4.63}, {'connected_gene': 'OR4X1', 'score': 1.61}, {'connected_gene': 'PTPRJ-AS1', 'score': 0.44}]
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}]
chr11 GH11I047368 47368824 47370408 0.63 [{'connected_gene': 'GC11P047369', 'score': 550.77}, {'connected_gene': 'C1QTNF4', 'score': 26.29}, {'connected_gene': 'MTCH2', 'score': 14.91}, {'connected_gene': 'SLC39A13', 'score': 12.31}, {'connected_gene': 'GC11M054465', 'score': 0.44}, {'connected_gene': 'SPI1', 'score': 0.31}]

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