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
ENST00000533507 [[47586887, 47587348], [47587457, 47587538], [47593022, 47593295], [47602076, 47602536], [47603639, 47603765], [47603900, 47604020], [47605865, 47606113]] None
ENST00000263774 [[47600561, 47600710], [47600820, 47600886], [47602076, 47602174], [47602386, 47602536], [47603639, 47603765], [47603900, 47604020], [47605865, 47606114]] [[47600643, 47600710], [47600820, 47600886], [47602076, 47602174], [47602386, 47602536], [47603639, 47603765], [47603900, 47604020], [47605865, 47606033]]
ENST00000529276 [[47600580, 47600710], [47600820, 47601248]] [[47600643, 47600710], [47600820, 47600957]]
ENST00000528192 [[47600591, 47600710], [47600820, 47600886], [47602076, 47602174], [47602386, 47602536], [47602727, 47602855]] [[47600643, 47600710], [47600820, 47600886], [47602076, 47602174], [47602386, 47602536], [47602727, 47602832]]
ENST00000530295 [[47600623, 47600710], [47602076, 47602174], [47602386, 47602454]] [[47600643, 47600710], [47602076, 47602174], [47602386, 47602454]]
ENST00000534208 [[47600623, 47600710], [47600820, 47600886], [47602076, 47602506]] [[47600643, 47600710], [47600820, 47600886], [47602076, 47602309]]
ENST00000534716 [[47600625, 47600710], [47600820, 47600886], [47602076, 47602174], [47602386, 47603400]] [[47600643, 47600710], [47600820, 47600886], [47602076, 47602174], [47602386, 47602554]]
ENST00000533105 [[47600636, 47600886], [47602076, 47602393]] None
ENST00000524568 [[47600650, 47600886], [47602076, 47602174], [47602386, 47602536], [47603639, 47603765], [47603900, 47604023]] None
ENST00000531351 [[47600819, 47600886], [47602076, 47602155], [47602386, 47602663]] None
ENST00000525378 [[47603320, 47603765], [47603900, 47604020], [47605865, 47606079]] None
ENST00000525212 [[47603603, 47603765], [47603900, 47604020], [47605865, 47606113]] None
ENST00000527178 [[47603793, 47604020], [47605865, 47605907]] None
NM_004551 [[47600561, 47600710], [47600820, 47600886], [47602076, 47602174], [47602386, 47602536], [47603639, 47603765], [47603900, 47604020], [47605865, 47606115]] [[47600643, 47600710], [47600820, 47600886], [47602076, 47602174], [47602386, 47602536], [47603639, 47603765], [47603900, 47604020], [47605865, 47606033]]
Promoter
Chrom Start End Description
chr11 47600598 47600642 CAGE_peak_1_at_NDUFS3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I047495 47495389 47495558 0.87 [{'connected_gene': 'RAPSN', 'score': 11.38}, {'connected_gene': 'NDUFS3', 'score': 11.23}, {'connected_gene': 'ENSG00000231880', 'score': 10.42}, {'connected_gene': 'RNU5E-10P', 'score': 10.42}, {'connected_gene': 'MTCH2', 'score': 10.14}, {'connected_gene': 'AGBL2', 'score': 9.96}, {'connected_gene': 'GC11P047482', 'score': 0.39}, {'connected_gene': 'ENSG00000270072', 'score': 0.37}, {'connected_gene': 'CELF1', 'score': 0.19}]
chr11 GH11I047476 47476984 47478463 0.66 [{'connected_gene': 'RAPSN', 'score': 12.13}, {'connected_gene': 'CELF1', 'score': 11.69}, {'connected_gene': 'PTPMT1', 'score': 11.69}, {'connected_gene': 'NDUFS3', 'score': 11.69}, {'connected_gene': 'C1QTNF4', 'score': 11.04}, {'connected_gene': 'RNU5E-10P', 'score': 10.34}, {'connected_gene': 'ENSG00000231880', 'score': 10.34}, {'connected_gene': 'MTCH2', 'score': 9.88}, {'connected_gene': 'GC11P047482', 'score': 0.77}, {'connected_gene': 'GC11M055362', 'score': 0.44}]
chr11 GH11I047577 47577329 47580402 2.15 [{'connected_gene': 'KBTBD4', 'score': 560.4}, {'connected_gene': 'ENSG00000231880', 'score': 550.77}, {'connected_gene': 'NDUFS3', 'score': 550.39}, {'connected_gene': 'FNBP4', 'score': 107.21}, {'connected_gene': 'NUP160', 'score': 105.62}, {'connected_gene': 'ENSG00000200090', 'score': 77.09}, {'connected_gene': 'ENSG00000270060', 'score': 68.78}, {'connected_gene': 'DDB2', 'score': 52.69}, {'connected_gene': 'ZNF408', 'score': 42.46}, {'connected_gene': 'CELF1', 'score': 21.99}, {'connected_gene': 'AMBRA1', 'score': 21.18}, {'connected_gene': 'ARFGAP2', 'score': 18.71}, {'connected_gene': 'C1QTNF4', 'score': 18.04}, {'connected_gene': 'C11orf49', 'score': 10.89}, {'connected_gene': 'GC11M055376', 'score': 0.39}]
chr11 GH11I047454 47454289 47454478 0.85 [{'connected_gene': 'NDUFS3', 'score': 11.25}, {'connected_gene': 'MTCH2', 'score': 9.84}, {'connected_gene': 'RAPSN', 'score': 0.44}, {'connected_gene': 'GC11M055362', 'score': 0.37}]
chr11 GH11I047534 47532949 47533098 0.69 [{'connected_gene': 'NDUFS3', 'score': 10.85}, {'connected_gene': 'ENSG00000231880', 'score': 10.82}, {'connected_gene': 'RNU5E-10P', 'score': 10.82}, {'connected_gene': 'KBTBD4', 'score': 10.34}, {'connected_gene': 'AGBL2', 'score': 9.26}, {'connected_gene': 'ENSG00000270072', 'score': 0.37}, {'connected_gene': 'RN7SL652P', 'score': 0.34}, {'connected_gene': 'CELF1', 'score': 0.29}, {'connected_gene': 'GC11P047482', 'score': 0.23}]
chr11 GH11I047533 47533201 47534600 0.86 [{'connected_gene': 'NDUFS3', 'score': 10.85}, {'connected_gene': 'ENSG00000231880', 'score': 10.82}, {'connected_gene': 'RNU5E-10P', 'score': 10.82}, {'connected_gene': 'KBTBD4', 'score': 10.34}, {'connected_gene': 'FNBP4', 'score': 9.31}, {'connected_gene': 'AGBL2', 'score': 9.26}, {'connected_gene': 'PACSIN3', 'score': 4.3}, {'connected_gene': 'ENSG00000270072', 'score': 0.37}, {'connected_gene': 'RN7SL652P', 'score': 0.34}, {'connected_gene': 'CELF1', 'score': 0.29}, {'connected_gene': 'GC11P047482', 'score': 0.23}]
chr11 GH11I047529 47529744 47530986 0.2 [{'connected_gene': 'NDUFS3', 'score': 11.09}, {'connected_gene': 'ENSG00000231880', 'score': 10.83}, {'connected_gene': 'RNU5E-10P', 'score': 10.83}, {'connected_gene': 'C1QTNF4', 'score': 10.48}, {'connected_gene': 'MTCH2', 'score': 9.99}, {'connected_gene': 'ENSG00000270072', 'score': 0.37}, {'connected_gene': 'RN7SL652P', 'score': 0.31}, {'connected_gene': 'CELF1', 'score': 0.28}, {'connected_gene': 'GC11P047482', 'score': 0.25}]
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 GH11I047486 47486539 47488481 0.59 [{'connected_gene': 'MYBPC3', 'score': 11.55}, {'connected_gene': 'RAPSN', 'score': 11.41}, {'connected_gene': 'NDUFS3', 'score': 11.21}, {'connected_gene': 'RNU5E-10P', 'score': 10.41}, {'connected_gene': 'ENSG00000231880', 'score': 10.4}, {'connected_gene': 'MTCH2', 'score': 10.13}, {'connected_gene': 'AGBL2', 'score': 9.96}, {'connected_gene': 'C1QTNF4', 'score': 7.56}, {'connected_gene': 'GC11P047482', 'score': 0.44}, {'connected_gene': 'ENSG00000270072', 'score': 0.31}, {'connected_gene': 'CELF1', 'score': 0.18}]
chr11 GH11I047611 47611649 47611798 0.49 [{'connected_gene': 'FAM180B', 'score': 12.23}, {'connected_gene': 'PTPMT1', 'score': 11.77}, {'connected_gene': 'CELF1', 'score': 11.77}, {'connected_gene': 'NDUFS3', 'score': 11.77}, {'connected_gene': 'KBTBD4', 'score': 11.54}, {'connected_gene': 'MTCH2', 'score': 11.27}, {'connected_gene': 'ENSG00000231880', 'score': 11.22}, {'connected_gene': 'RNU5E-10P', 'score': 11.2}, {'connected_gene': 'RAPSN', 'score': 10.55}, {'connected_gene': 'AGBL2', 'score': 10.33}, {'connected_gene': 'NUP160', 'score': 9.53}, {'connected_gene': 'GC11M055369', 'score': 0.77}, {'connected_gene': 'PIR60352', 'score': 0.39}]
chr11 GH11I047606 47606722 47608641 0.72 [{'connected_gene': 'FNBP4', 'score': 19.62}, {'connected_gene': 'FAM180B', 'score': 12.28}, {'connected_gene': 'KBTBD4', 'score': 12.13}, {'connected_gene': 'NDUFS3', 'score': 12.08}, {'connected_gene': 'PTPMT1', 'score': 11.73}, {'connected_gene': 'CELF1', 'score': 11.73}, {'connected_gene': 'ENSG00000231880', 'score': 11.32}, {'connected_gene': 'RNU5E-10P', 'score': 11.3}, {'connected_gene': 'MTCH2', 'score': 11.2}, {'connected_gene': 'AGBL2', 'score': 10.41}, {'connected_gene': 'RAPSN', 'score': 10.38}, {'connected_gene': 'PIR60352', 'score': 0.44}, {'connected_gene': 'GC11M055369', 'score': 0.44}]
chr11 GH11I047498 47498770 47500200 1.1 [{'connected_gene': 'PTPMT1', 'score': 11.9}, {'connected_gene': 'CELF1', 'score': 11.9}, {'connected_gene': 'NDUFS3', 'score': 11.9}, {'connected_gene': 'RAPSN', 'score': 11.31}, {'connected_gene': 'ENSG00000231880', 'score': 11.22}, {'connected_gene': 'KBTBD4', 'score': 11.22}, {'connected_gene': 'RNU5E-10P', 'score': 11.22}, {'connected_gene': 'FAM180B', 'score': 10.77}, {'connected_gene': 'C1QTNF4', 'score': 10.76}, {'connected_gene': 'MTCH2', 'score': 10.31}, {'connected_gene': 'ENSG00000270072', 'score': 0.37}, {'connected_gene': 'GC11P047482', 'score': 0.37}]
chr11 GH11I047564 47564843 47566921 2 [{'connected_gene': 'PTPMT1', 'score': 550.77}, {'connected_gene': 'CELF1', 'score': 550.77}, {'connected_gene': 'NDUFS3', 'score': 550.77}, {'connected_gene': 'NUP160', 'score': 14.59}, {'connected_gene': 'FNBP4', 'score': 14.06}, {'connected_gene': 'ENSG00000270060', 'score': 13.49}, {'connected_gene': 'ZNF408', 'score': 10.62}, {'connected_gene': 'DDB2', 'score': 10.39}, {'connected_gene': 'C1QTNF4', 'score': 8.35}, {'connected_gene': 'ENSG00000255197', 'score': 4.84}, {'connected_gene': 'PTPRJ', 'score': 4.12}, {'connected_gene': 'RNU5E-10P', 'score': 0.39}, {'connected_gene': 'GC11M055376', 'score': 0.31}]
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 GH11I047532 47532601 47532800 0.58 [{'connected_gene': 'C1QTNF4', 'score': 26.43}, {'connected_gene': 'NDUFS3', 'score': 11.09}, {'connected_gene': 'RNU5E-10P', 'score': 10.84}, {'connected_gene': 'ENSG00000231880', 'score': 10.83}, {'connected_gene': 'MTCH2', 'score': 9.99}, {'connected_gene': 'ENSG00000270072', 'score': 0.37}, {'connected_gene': 'RN7SL652P', 'score': 0.31}, {'connected_gene': 'CELF1', 'score': 0.29}, {'connected_gene': 'GC11P047482', 'score': 0.23}]
chr11 GH11I047617 47617109 47618331 0.66 [{'connected_gene': 'C1QTNF4', 'score': 12.47}, {'connected_gene': 'FAM180B', 'score': 12.21}, {'connected_gene': 'PTPMT1', 'score': 11.76}, {'connected_gene': 'CELF1', 'score': 11.76}, {'connected_gene': 'NDUFS3', 'score': 11.76}, {'connected_gene': 'MTCH2', 'score': 11.64}, {'connected_gene': 'KBTBD4', 'score': 11.59}, {'connected_gene': 'ENSG00000231880', 'score': 11.2}, {'connected_gene': 'RNU5E-10P', 'score': 11.18}, {'connected_gene': 'RAPSN', 'score': 10.55}, {'connected_gene': 'AGBL2', 'score': 10.33}, {'connected_gene': 'NUP160', 'score': 9.85}, {'connected_gene': 'PTPRJ', 'score': 4.12}, {'connected_gene': 'GC11M055369', 'score': 0.77}]
chr11 GH11I047537 47537202 47541583 1.24 [{'connected_gene': 'C1QTNF4', 'score': 16.36}, {'connected_gene': 'PTPMT1', 'score': 12.33}, {'connected_gene': 'CELF1', 'score': 12.33}, {'connected_gene': 'NDUFS3', 'score': 12.33}, {'connected_gene': 'KBTBD4', 'score': 11.83}, {'connected_gene': 'ENSG00000231880', 'score': 11.55}, {'connected_gene': 'RNU5E-10P', 'score': 11.55}, {'connected_gene': 'MADD', 'score': 11.14}, {'connected_gene': 'MTCH2', 'score': 10.8}, {'connected_gene': 'FNBP4', 'score': 9.26}, {'connected_gene': 'RN7SL652P', 'score': 0.37}, {'connected_gene': 'ENSG00000270072', 'score': 0.34}, {'connected_gene': 'GC11P047482', 'score': 0.22}]
chr11 GH11I047488 47488943 47489002 0.81 [{'connected_gene': 'CELF1', 'score': 550.18}, {'connected_gene': 'RAPSN', 'score': 11.41}, {'connected_gene': 'NDUFS3', 'score': 11.21}, {'connected_gene': 'ENSG00000231880', 'score': 10.41}, {'connected_gene': 'RNU5E-10P', 'score': 10.41}, {'connected_gene': 'MTCH2', 'score': 10.13}, {'connected_gene': 'AGBL2', 'score': 9.96}, {'connected_gene': 'GC11P047482', 'score': 0.44}, {'connected_gene': 'ENSG00000270072', 'score': 0.31}]
chr11 GH11I047494 47494581 47494640 0.7 [{'connected_gene': 'CELF1', 'score': 550.19}, {'connected_gene': 'RAPSN', 'score': 11.38}, {'connected_gene': 'NDUFS3', 'score': 11.22}, {'connected_gene': 'ENSG00000231880', 'score': 10.42}, {'connected_gene': 'RNU5E-10P', 'score': 10.42}, {'connected_gene': 'MTCH2', 'score': 10.14}, {'connected_gene': 'AGBL2', 'score': 9.96}, {'connected_gene': 'GC11P047482', 'score': 0.39}, {'connected_gene': 'ENSG00000270072', 'score': 0.34}]
chr11 GH11I047572 47571401 47571600 0.31 [{'connected_gene': 'CELF1', 'score': 0.44}, {'connected_gene': 'PTPMT1', 'score': 0.44}, {'connected_gene': 'RNU5E-10P', 'score': 0.44}, {'connected_gene': 'NDUFS3', 'score': 0.44}, {'connected_gene': 'GC11M055376', 'score': 0.37}]
chr11 GH11I047521 47521801 47526630 1.79 [{'connected_gene': 'CELF1', 'score': 562.58}, {'connected_gene': 'C1QTNF4', 'score': 43.13}, {'connected_gene': 'PTPMT1', 'score': 12.58}, {'connected_gene': 'NDUFS3', 'score': 12.58}, {'connected_gene': 'FAM180B', 'score': 10.78}, {'connected_gene': 'ENSG00000231880', 'score': 10.74}, {'connected_gene': 'RNU5E-10P', 'score': 10.74}, {'connected_gene': 'C11orf49', 'score': 4.71}, {'connected_gene': 'ENSG00000270072', 'score': 0.44}, {'connected_gene': 'RN7SL652P', 'score': 0.29}, {'connected_gene': 'GC11P047482', 'score': 0.26}]
chr11 GH11I047571 47571933 47573106 0.82 [{'connected_gene': 'RNU5E-10P', 'score': 0.77}, {'connected_gene': 'CELF1', 'score': 0.44}, {'connected_gene': 'PTPMT1', 'score': 0.44}, {'connected_gene': 'KBTBD4', 'score': 0.44}, {'connected_gene': 'NDUFS3', 'score': 0.44}, {'connected_gene': 'GC11M055376', 'score': 0.37}]
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}]

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