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
ENST00000495866 [[47269850, 47269906], [47270189, 47270415], [47281341, 47281530], [47281959, 47282057]] None
ENST00000527464 [[47269850, 47269906], [47270189, 47270415], [47281341, 47281530], [47281959, 47282226], [47282791, 47283000], [47283097, 47283277], [47283469, 47283525]] None
ENST00000529540 [[47269861, 47269906], [47270230, 47270415], [47281341, 47281530], [47281959, 47282226], [47282791, 47283000], [47283097, 47283277], [47283469, 47283569], [47289463, 47289577], [47289811, 47289906], [47290100, 47290389]] None
ENST00000395397 [[47270466, 47270550], [47281341, 47281530], [47281959, 47282226], [47282791, 47283000], [47283097, 47283277], [47283469, 47283569], [47289463, 47289577], [47289811, 47289906], [47290100, 47290363]] [[47281433, 47281530], [47281959, 47282226], [47282791, 47283000], [47283097, 47283277], [47283469, 47283569], [47289463, 47289577], [47289811, 47289906], [47290100, 47290247]]
ENST00000405576 [[47270466, 47270550], [47281341, 47281530], [47281959, 47282226], [47282791, 47283000], [47283469, 47283569], [47289463, 47289577], [47289811, 47289906], [47290100, 47290394]] [[47281433, 47281530], [47281959, 47282226], [47282791, 47283000], [47283469, 47283569], [47289463, 47289577], [47289811, 47289906], [47290100, 47290247]]
ENST00000481020 [[47270474, 47270550], [47281341, 47281530], [47281959, 47282226], [47282791, 47283000], [47283097, 47283569], [47289463, 47289577], [47289811, 47289906], [47290100, 47290382]] None
ENST00000481889 [[47270474, 47270550], [47281341, 47281530], [47281959, 47282226], [47282791, 47283000], [47283097, 47283569], [47289463, 47289577], [47289811, 47289906], [47290100, 47290382]] [[47281433, 47281530], [47281959, 47282226], [47282791, 47283000], [47283097, 47283569], [47289463, 47289577], [47289811, 47289906], [47290100, 47290247]]
ENST00000436778 [[47270477, 47270550], [47272016, 47272102], [47280730, 47280810], [47281341, 47281530], [47281959, 47282226], [47282791, 47282898]] [[47280767, 47280810], [47281341, 47281530], [47281959, 47282226], [47282791, 47282898]]
ENST00000487913 [[47270477, 47270550], [47282791, 47283570]] None
ENST00000531660 [[47270477, 47270550], [47281341, 47281530], [47282791, 47283000], [47283469, 47283569], [47289463, 47289559]] [[47281433, 47281530], [47282791, 47283000], [47283469, 47283569], [47289463, 47289559]]
ENST00000532630 [[47270477, 47270550], [47289463, 47289577], [47289811, 47289906], [47290100, 47290367]] None
ENST00000407404 [[47270506, 47270550], [47280730, 47280810], [47281341, 47281530], [47281959, 47282226], [47282791, 47283000], [47283469, 47283569], [47289463, 47289577], [47289811, 47289906], [47290100, 47290332]] [[47280767, 47280810], [47281341, 47281530], [47281959, 47282226], [47282791, 47283000], [47283469, 47283569], [47289463, 47289577], [47289811, 47289906], [47290100, 47290247]]
ENST00000444396 [[47279154, 47279186], [47279546, 47279680], [47280730, 47280810], [47281341, 47281530], [47281959, 47282226], [47282791, 47282873]] [[47280767, 47280810], [47281341, 47281530], [47281959, 47282226], [47282791, 47282873]]
ENST00000457932 [[47279173, 47279286], [47279546, 47279716], [47280730, 47280810], [47281341, 47281530]] [[47280767, 47280810], [47281341, 47281530]]
ENST00000412937 [[47279208, 47279286], [47281341, 47281530], [47281959, 47282226], [47282791, 47282831]] [[47281433, 47281530], [47281959, 47282226], [47282791, 47282831]]
ENST00000449369 [[47279247, 47279286], [47279546, 47279680], [47280730, 47280810], [47281341, 47281530], [47281959, 47282226], [47282791, 47282907]] [[47280767, 47280810], [47281341, 47281530], [47281959, 47282226], [47282791, 47282907]]
ENST00000486991 [[47279258, 47279286], [47279546, 47280057]] None
ENST00000419652 [[47279260, 47279286], [47279546, 47279716], [47280730, 47280810], [47280911, 47281157], [47281341, 47281374]] [[47280767, 47280810], [47280911, 47281033]]
ENST00000461778 [[47279467, 47279680], [47280651, 47280810], [47281341, 47281530], [47282101, 47282226], [47282791, 47282831]] None
ENST00000441012 [[47279512, 47279680], [47280730, 47280810], [47281341, 47281530], [47281959, 47282226], [47282791, 47283000], [47283097, 47283277], [47283469, 47283569], [47289463, 47289577], [47289811, 47289906], [47290100, 47290335]] [[47280767, 47280810], [47281341, 47281530], [47281959, 47282226], [47282791, 47283000], [47283097, 47283277], [47283469, 47283569], [47289463, 47289577], [47289811, 47289906], [47290100, 47290247]]
ENST00000437276 [[47279513, 47279716], [47280735, 47280810], [47281341, 47281503]] [[47280767, 47280810], [47281341, 47281503]]
ENST00000525441 [[47279520, 47279680], [47280730, 47280810], [47281341, 47281530], [47282791, 47282972]] None
ENST00000436029 [[47279521, 47279680], [47280651, 47280810], [47281341, 47281530], [47281959, 47282226], [47282791, 47282928]] [[47280767, 47280810], [47281341, 47281530], [47281959, 47282226], [47282791, 47282928]]
ENST00000467728 [[47279529, 47280810], [47281341, 47281530], [47281959, 47282226], [47282791, 47283000], [47283097, 47283277], [47283469, 47283569], [47289463, 47289577], [47289811, 47289906], [47290100, 47290396]] [[47280767, 47280810], [47281341, 47281530], [47281959, 47282226], [47282791, 47283000], [47283097, 47283277], [47283469, 47283569], [47289463, 47289577], [47289811, 47289906], [47290100, 47290247]]
ENST00000420369 [[47279546, 47279680], [47280730, 47280810], [47281336, 47281530], [47281959, 47282226], [47282791, 47282896]] [[47280767, 47280810], [47281336, 47281530], [47281959, 47282067]]
ENST00000405853 [[47279548, 47279680], [47280730, 47280810], [47281341, 47281530], [47281959, 47282226], [47282791, 47283000], [47283469, 47283569], [47289463, 47289577], [47289811, 47289906], [47290100, 47290394]] [[47280767, 47280810], [47281341, 47281530], [47281959, 47282226], [47282791, 47283000], [47283469, 47283569], [47289463, 47289577], [47289811, 47289906], [47290100, 47290247]]
ENST00000476086 [[47279551, 47279680], [47281341, 47281530], [47281959, 47282229]] None
ENST00000530310 [[47279656, 47279716], [47280730, 47280810], [47281336, 47281530], [47281959, 47282167]] None
ENST00000498548 [[47280430, 47280810], [47281341, 47281520]] None
ENST00000473222 [[47281014, 47281157], [47281341, 47281530], [47281959, 47282176]] None
ENST00000483882 [[47281137, 47281530], [47281959, 47282138]] None
ENST00000527949 [[47281947, 47282226], [47282791, 47283000], [47283469, 47283569], [47289463, 47289577], [47289811, 47289906], [47290100, 47290368]] [[47282000, 47282226], [47282791, 47283000], [47283469, 47283569], [47289463, 47289577], [47289811, 47289906], [47290100, 47290247]]
ENST00000462051 [[47289495, 47289906], [47290100, 47290395]] None
ENST00000494018 [[47289691, 47289906], [47290100, 47290395]] None
NM_001251934 [[47269850, 47269906], [47270230, 47270415], [47281341, 47281530], [47281959, 47282226], [47282791, 47283000], [47283097, 47283277], [47283469, 47283569], [47289463, 47289577], [47289811, 47289906], [47290100, 47290584]] [[47270354, 47270415], [47281341, 47281530], [47281959, 47282226], [47282791, 47283000], [47283097, 47283277], [47283469, 47283569], [47289463, 47289577], [47289811, 47289906], [47290100, 47290247]]
NM_001251935 [[47269850, 47269906], [47270189, 47270415], [47281341, 47281530], [47281959, 47282226], [47282791, 47283000], [47283097, 47283277], [47283469, 47283569], [47289463, 47289577], [47289811, 47289906], [47290100, 47290584]] [[47270354, 47270415], [47281341, 47281530], [47281959, 47282226], [47282791, 47283000], [47283097, 47283277], [47283469, 47283569], [47289463, 47289577], [47289811, 47289906], [47290100, 47290247]]
NM_001130102 [[47270448, 47270550], [47281341, 47281530], [47281959, 47282226], [47282791, 47283000], [47283097, 47283277], [47283469, 47283569], [47289463, 47289577], [47289811, 47289906], [47290100, 47290584]] [[47281433, 47281530], [47281959, 47282226], [47282791, 47283000], [47283097, 47283277], [47283469, 47283569], [47289463, 47289577], [47289811, 47289906], [47290100, 47290247]]
NM_001130101 [[47279467, 47279680], [47280730, 47280810], [47281341, 47281530], [47281959, 47282226], [47282791, 47283000], [47283469, 47283569], [47289463, 47289577], [47289811, 47289906], [47290100, 47290584]] [[47280767, 47280810], [47281341, 47281530], [47281959, 47282226], [47282791, 47283000], [47283469, 47283569], [47289463, 47289577], [47289811, 47289906], [47290100, 47290247]]
NM_005693 [[47279467, 47279680], [47280730, 47280810], [47281341, 47281530], [47281959, 47282226], [47282791, 47283000], [47283097, 47283277], [47283469, 47283569], [47289463, 47289577], [47289811, 47289906], [47290100, 47290584]] [[47280767, 47280810], [47281341, 47281530], [47281959, 47282226], [47282791, 47283000], [47283097, 47283277], [47283469, 47283569], [47289463, 47289577], [47289811, 47289906], [47290100, 47290247]]
Promoter
Chrom Start End Description
chr11 47270436 47270464 CAGE_peak_2_at_NR1H3_5end
chr11 47270477 47270494 CAGE_peak_4_at_NR1H3_5end
chr11 47279167 47279178 CAGE_peak_10_at_NR1H3_5end
chr11 47279248 47279264 CAGE_peak_3_at_NR1H3_5end
chr11 47279491 47279502 CAGE_peak_6_at_NR1H3_5end
chr11 47279504 47279563 CAGE_peak_1_at_NR1H3_5end
chr11 47279568 47279577 CAGE_peak_8_at_NR1H3_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 GH11I046308 46308402 46309449 1.17 [{'connected_gene': 'DGKZ', 'score': 12.3}, {'connected_gene': 'CREB3L1', 'score': 11.99}, {'connected_gene': 'LINC02489', 'score': 11.99}, {'connected_gene': 'MDK', 'score': 10.54}, {'connected_gene': 'C11orf49', 'score': 4.13}, {'connected_gene': 'NR1H3', 'score': 3.89}, {'connected_gene': 'GC11P046331', 'score': 0.34}]
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 GH11I047232 47232827 47235770 0.91 [{'connected_gene': 'ACP2', 'score': 14.13}, {'connected_gene': 'RPS20P26', 'score': 12.63}, {'connected_gene': 'PACSIN3', 'score': 12.61}, {'connected_gene': 'MADD', 'score': 12.1}, {'connected_gene': 'LOC101928943', 'score': 12.09}, {'connected_gene': 'ARFGAP2', 'score': 11.01}, {'connected_gene': 'MYBPC3', 'score': 7.27}, {'connected_gene': 'ENSG00000256897', 'score': 0.39}, {'connected_gene': 'NR1H3', 'score': 0.39}, {'connected_gene': 'DDB2', 'score': 0.37}]
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 GH11I047244 47244551 47246609 0.68 [{'connected_gene': 'ACP2', 'score': 13.31}, {'connected_gene': 'MYBPC3', 'score': 6.78}, {'connected_gene': 'NR1H3', 'score': 0.77}, {'connected_gene': 'ENSG00000256897', 'score': 0.34}]
chr11 GH11I047263 47263938 47266418 1.26 [{'connected_gene': 'ACP2', 'score': 16.21}, {'connected_gene': 'PACSIN3', 'score': 9.21}, {'connected_gene': 'MADD', 'score': 0.77}, {'connected_gene': 'NR1H3', 'score': 0.37}]
chr11 GH11I047252 47252554 47256695 1.32 [{'connected_gene': 'ACP2', 'score': 16.3}, {'connected_gene': 'ENSG00000256897', 'score': 11.08}, {'connected_gene': 'DDB2', 'score': 11.05}, {'connected_gene': 'PACSIN3', 'score': 10.93}, {'connected_gene': 'ARFGAP2', 'score': 10.91}, {'connected_gene': 'MADD', 'score': 8.13}, {'connected_gene': 'MYBPC3', 'score': 7.14}, {'connected_gene': 'SPI1', 'score': 7.12}, {'connected_gene': 'CELF1', 'score': 4.88}, {'connected_gene': 'NR1H3', 'score': 0.44}]
chr11 GH11I047247 47247701 47249869 2.13 [{'connected_gene': 'ACP2', 'score': 567.78}, {'connected_gene': 'NR1H3', 'score': 550.77}, {'connected_gene': 'DDB2', 'score': 33.06}, {'connected_gene': 'NUP160', 'score': 28.61}, {'connected_gene': 'ENSG00000270060', 'score': 25.51}, {'connected_gene': 'FNBP4', 'score': 23.65}, {'connected_gene': 'RPS10P19', 'score': 22.27}, {'connected_gene': 'PACSIN3', 'score': 19.56}, {'connected_gene': 'ZNF408', 'score': 18.49}, {'connected_gene': 'ENSG00000200090', 'score': 16.69}, {'connected_gene': 'ENSG00000256897', 'score': 11.1}, {'connected_gene': 'ARFGAP2', 'score': 10.61}, {'connected_gene': 'MYBPC3', 'score': 6.78}]
chr11 GH11I047241 47241558 47242811 0.46 [{'connected_gene': 'ACP2', 'score': 12.9}, {'connected_gene': 'NR1H3', 'score': 0.44}, {'connected_gene': 'ENSG00000256897', 'score': 0.34}]
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 GH11I047182 47182244 47190492 2.74 [{'connected_gene': 'PACSIN3', 'score': 566.87}, {'connected_gene': 'ENSG00000271350', 'score': 25.93}, {'connected_gene': 'LRP4', 'score': 13.54}, {'connected_gene': 'C11orf49', 'score': 5.94}, {'connected_gene': 'MADD', 'score': 4.53}, {'connected_gene': 'NR1H3', 'score': 1.5}, {'connected_gene': 'MIR6745', 'score': 0.44}]
chr11 GH11I047340 47340701 47343703 0.56 [{'connected_gene': 'C1QTNF4', 'score': 17.51}, {'connected_gene': 'MADD', 'score': 16.94}, {'connected_gene': 'ACP2', 'score': 12.31}, {'connected_gene': 'LOC101928943', 'score': 11.27}, {'connected_gene': 'NR1H3', 'score': 11.24}, {'connected_gene': 'MTCH2', 'score': 9.1}, {'connected_gene': 'PACSIN3', 'score': 8.82}, {'connected_gene': 'GC11P047345', 'score': 0.77}, {'connected_gene': 'MYBPC3', 'score': 0.39}, {'connected_gene': 'ENSG00000283338', 'score': 0.37}]
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 GH11I047550 47550271 47554101 2.5 [{'connected_gene': 'CELF1', 'score': 556.19}, {'connected_gene': 'C1QTNF4', 'score': 18.73}, {'connected_gene': 'RNU5E-10P', 'score': 12.51}, {'connected_gene': 'ENSG00000231880', 'score': 12.48}, {'connected_gene': 'KBTBD4', 'score': 11.69}, {'connected_gene': 'FNBP4', 'score': 9.56}, {'connected_gene': 'PTPRJ', 'score': 5.98}, {'connected_gene': 'NR1H3', 'score': 4.44}, {'connected_gene': 'SPI1', 'score': 3.58}, {'connected_gene': 'RN7SL652P', 'score': 0.44}, {'connected_gene': 'ENSG00000270072', 'score': 0.28}, {'connected_gene': 'GC11M055376', 'score': 0.28}]
chr11 GH11I047336 47336952 47338059 1.02 [{'connected_gene': 'LOC101928943', 'score': 11.28}, {'connected_gene': 'MADD', 'score': 11.28}, {'connected_gene': 'NR1H3', 'score': 11.24}, {'connected_gene': 'MTCH2', 'score': 9.1}, {'connected_gene': 'MYBPC3', 'score': 6.93}, {'connected_gene': 'GC11P047345', 'score': 0.44}, {'connected_gene': 'ENSG00000283338', 'score': 0.39}]
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 GH11I047256 47256839 47260787 2.16 [{'connected_gene': 'NR1H3', 'score': 550.39}, {'connected_gene': 'PACSIN3', 'score': 21.15}, {'connected_gene': 'ACP2', 'score': 16.29}, {'connected_gene': 'ARFGAP2', 'score': 10.9}, {'connected_gene': 'MADD', 'score': 8.18}, {'connected_gene': 'C1QTNF4', 'score': 4.0}]
chr11 GH11I047344 47344953 47348890 0.52 [{'connected_gene': 'GC11P047345', 'score': 550.77}, {'connected_gene': 'LOC101928943', 'score': 11.44}, {'connected_gene': 'MADD', 'score': 11.43}, {'connected_gene': 'NR1H3', 'score': 11.4}, {'connected_gene': 'ACP2', 'score': 10.21}, {'connected_gene': 'PACSIN3', 'score': 8.48}, {'connected_gene': 'MYBPC3', 'score': 6.81}]
chr11 GH11I047343 47343787 47344919 0.31 [{'connected_gene': 'GC11P047345', 'score': 550.77}, {'connected_gene': 'LOC101928943', 'score': 11.44}, {'connected_gene': 'MADD', 'score': 11.43}, {'connected_gene': 'NR1H3', 'score': 11.4}, {'connected_gene': 'PACSIN3', 'score': 10.31}, {'connected_gene': 'MTCH2', 'score': 9.1}, {'connected_gene': 'MYBPC3', 'score': 0.44}, {'connected_gene': 'ENSG00000283338', 'score': 0.34}]

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