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
ENST00000263409 [[38475064, 38482320], [38482690, 38482769], [38484876, 38484970], [38485920, 38486082], [38489179, 38489347], [38490291, 38490393], [38493707, 38493887], [38496483, 38496697], [38499614, 38499685], [38502738, 38502901], [38504077, 38504223], [38506006, 38506176], [38506604, 38506734], [38510565, 38510820], [38511891, 38512066], [38523520, 38523684], [38527256, 38527396], [38528827, 38528942], [38530607, 38530768], [38595362, 38595506]] [[38481696, 38482320], [38482690, 38482769], [38484876, 38484970], [38485920, 38486082], [38489179, 38489347], [38490291, 38490393], [38493707, 38493887], [38496483, 38496697], [38499614, 38499685], [38502738, 38502901], [38504077, 38504223], [38506006, 38506176], [38506604, 38506734], [38510565, 38510820], [38511891, 38512066], [38523520, 38523684], [38527256, 38527396], [38528827, 38528942], [38530607, 38530749]]
ENST00000453190 [[38481069, 38482320], [38482690, 38482769], [38484876, 38484970], [38485920, 38486082], [38489179, 38489347], [38490291, 38490393], [38493707, 38493887], [38496483, 38496697], [38499614, 38499685], [38502738, 38502901], [38504077, 38504223], [38506006, 38506176], [38506604, 38506734], [38510565, 38510820], [38511891, 38512066], [38523520, 38523684], [38527256, 38527396], [38528827, 38528942], [38530607, 38530768], [38556435, 38556748]] [[38481696, 38482320], [38482690, 38482769], [38484876, 38484970], [38485920, 38486082], [38489179, 38489347], [38490291, 38490393], [38493707, 38493887], [38496483, 38496697], [38499614, 38499685], [38502738, 38502901], [38504077, 38504223], [38506006, 38506176], [38506604, 38506734], [38510565, 38510820], [38511891, 38512066], [38523520, 38523684], [38527256, 38527396], [38528827, 38528942], [38530607, 38530749]]
ENST00000503088 [[38490721, 38490864], [38493707, 38493887], [38496483, 38496697], [38499614, 38499685], [38502738, 38502901], [38504077, 38504223], [38506006, 38506176], [38506604, 38506734], [38510565, 38510820], [38511891, 38512066], [38523520, 38523684], [38527256, 38527396], [38528827, 38528942], [38530607, 38530768], [38595362, 38595506]] None
ENST00000506990 [[38527276, 38527396], [38528827, 38528942], [38530607, 38530768], [38555106, 38555167], [38556435, 38556738]] [[38527276, 38527396], [38528827, 38528942], [38530607, 38530749]]
ENST00000511561 [[38528860, 38528942], [38530607, 38530768], [38557236, 38557567]] [[38528860, 38528942], [38530607, 38530749]]
ENST00000508477 [[38485698, 38486082], [38489179, 38489347]] None
ENST00000506003 [[38486038, 38486082], [38489179, 38489347], [38490291, 38490393], [38493707, 38493887], [38496483, 38496636], [38499614, 38499685], [38502738, 38502777]] [[38496546, 38496636], [38499614, 38499685], [38502738, 38502777]]
ENST00000512723 [[38528773, 38528942], [38530607, 38531019]] None
ENST00000507786 [[38595072, 38595167], [38595362, 38595485], [38606306, 38606408], [38608253, 38608456]] None
NM_001127671 [[38475064, 38482320], [38482690, 38482769], [38484876, 38484970], [38485920, 38486082], [38489179, 38489347], [38490291, 38490393], [38493707, 38493887], [38496483, 38496697], [38499614, 38499685], [38502738, 38502901], [38504077, 38504223], [38506006, 38506176], [38506604, 38506734], [38510565, 38510820], [38511891, 38512066], [38523520, 38523684], [38527256, 38527396], [38528827, 38528942], [38530607, 38530768], [38556435, 38556748]] [[38481696, 38482320], [38482690, 38482769], [38484876, 38484970], [38485920, 38486082], [38489179, 38489347], [38490291, 38490393], [38493707, 38493887], [38496483, 38496697], [38499614, 38499685], [38502738, 38502901], [38504077, 38504223], [38506006, 38506176], [38506604, 38506734], [38510565, 38510820], [38511891, 38512066], [38523520, 38523684], [38527256, 38527396], [38528827, 38528942], [38530607, 38530749]]
NM_002310 [[38475064, 38482320], [38482690, 38482769], [38484876, 38484970], [38485920, 38486082], [38489179, 38489347], [38490291, 38490393], [38493707, 38493887], [38496483, 38496697], [38499614, 38499685], [38502738, 38502901], [38504077, 38504223], [38506006, 38506176], [38506604, 38506734], [38510565, 38510820], [38511891, 38512066], [38523520, 38523684], [38527256, 38527396], [38528827, 38528942], [38530607, 38530768], [38595362, 38595507]] [[38481696, 38482320], [38482690, 38482769], [38484876, 38484970], [38485920, 38486082], [38489179, 38489347], [38490291, 38490393], [38493707, 38493887], [38496483, 38496697], [38499614, 38499685], [38502738, 38502901], [38504077, 38504223], [38506006, 38506176], [38506604, 38506734], [38510565, 38510820], [38511891, 38512066], [38523520, 38523684], [38527256, 38527396], [38528827, 38528942], [38530607, 38530749]]
Promoter
Chrom Start End Description
chr5 38556700 38556714 CAGE_peak_3_at_LIFR_5end
chr5 38556728 38556771 CAGE_peak_1_at_LIFR_5end
chr5 38557323 38557328 CAGE_peak_12_at_LIFR_5end
chr5 38557343 38557361 CAGE_peak_4_at_LIFR_5end
chr5 38557372 38557385 CAGE_peak_5_at_LIFR_5end
chr5 38557561 38557574 CAGE_peak_6_at_LIFR_5end
chr5 38595498 38595514 CAGE_peak_2_at_LIFR_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I037717 37717166 37719100 1.67 [{'connected_gene': 'C5orf42', 'score': 43.11}, {'connected_gene': 'LIFR-AS1', 'score': 26.93}, {'connected_gene': 'ENSG00000270558', 'score': 15.13}, {'connected_gene': 'LIFR', 'score': 12.04}, {'connected_gene': 'ENSG00000272103', 'score': 11.36}, {'connected_gene': 'RNU6-484P', 'score': 0.37}, {'connected_gene': 'GC05M037700', 'score': 0.37}, {'connected_gene': 'GDNF-AS1', 'score': 0.16}, {'connected_gene': 'WDR70', 'score': 0.05}]
chr5 GH05I038738 38738511 38740128 0.75 [{'connected_gene': 'LIFR', 'score': 9.99}, {'connected_gene': 'LOC105374732', 'score': 9.79}, {'connected_gene': 'LOC100132789', 'score': 0.31}, {'connected_gene': 'ENSG00000251189', 'score': 0.22}, {'connected_gene': 'OSMR-AS1', 'score': 0.14}, {'connected_gene': 'LINC01265', 'score': 0.14}]
chr5 GH05I038607 38607059 38608448 1.06 [{'connected_gene': 'LIFR', 'score': 563.7}, {'connected_gene': 'LINC01265', 'score': 17.78}, {'connected_gene': 'OSMR', 'score': 11.46}, {'connected_gene': 'LIFR-AS1', 'score': 9.49}, {'connected_gene': 'GC05P038579', 'score': 0.31}]
chr5 GH05I038639 38639136 38640738 0.62 [{'connected_gene': 'LIFR', 'score': 10.85}, {'connected_gene': 'ENSG00000251189', 'score': 10.07}, {'connected_gene': 'LINC01265', 'score': 10.03}, {'connected_gene': 'LIFR-AS1', 'score': 0.18}]
chr5 GH05I038538 38538143 38538517 0.22 [{'connected_gene': 'LIFR', 'score': 1.89}, {'connected_gene': 'LIFR-AS1', 'score': 0.37}, {'connected_gene': 'LOC105374732', 'score': 0.2}]
chr5 GH05I038527 38527314 38529400 0.8 [{'connected_gene': 'LIFR', 'score': 9.75}, {'connected_gene': 'LIFR-AS1', 'score': 0.31}, {'connected_gene': 'LOC105374732', 'score': 0.21}]
chr5 GH05I038551 38551201 38551688 1.04 [{'connected_gene': 'LIFR', 'score': 6.45}, {'connected_gene': 'LIFR-AS1', 'score': 0.44}, {'connected_gene': 'LOC105374732', 'score': 0.18}]
chr5 GH05I038554 38554800 38558043 2 [{'connected_gene': 'LIFR', 'score': 577.07}, {'connected_gene': 'LIFR-AS1', 'score': 573.49}, {'connected_gene': 'MIR3650', 'score': 550.77}, {'connected_gene': 'LOC105374732', 'score': 10.71}, {'connected_gene': 'EGFLAM-AS1', 'score': 10.61}, {'connected_gene': 'ENSG00000248234', 'score': 10.61}, {'connected_gene': 'EGFLAM-AS2', 'score': 10.18}, {'connected_gene': 'EGFLAM', 'score': 10.14}]
chr5 GH05I038640 38640898 38641523 0.2 [{'connected_gene': 'LIFR', 'score': 10.85}, {'connected_gene': 'ENSG00000251189', 'score': 0.26}, {'connected_gene': 'LIFR-AS1', 'score': 0.18}]
chr5 GH05I038613 38613779 38615636 0.63 [{'connected_gene': 'LIFR', 'score': 0.44}, {'connected_gene': 'LIFR-AS1', 'score': 0.22}, {'connected_gene': 'ENSG00000251189', 'score': 0.2}]
chr5 GH05I038594 38594835 38596214 1.02 [{'connected_gene': 'LIFR', 'score': 556.25}, {'connected_gene': 'LIFR-AS1', 'score': 10.97}, {'connected_gene': 'GC05P038579', 'score': 0.37}]
chr5 GH05I038670 38670594 38673550 0.84 [{'connected_gene': 'LIFR', 'score': 16.1}, {'connected_gene': 'ENSG00000251189', 'score': 0.44}, {'connected_gene': 'LIFR-AS1', 'score': 0.13}]
chr5 GH05I038633 38633341 38637505 0.75 [{'connected_gene': 'LIFR', 'score': 11.19}, {'connected_gene': 'LIFR-AS1', 'score': 9.83}, {'connected_gene': 'ENSG00000251189', 'score': 9.01}]
chr5 GH05I038718 38718183 38720403 0.85 [{'connected_gene': 'LIFR', 'score': 10.02}, {'connected_gene': 'ENSG00000251189', 'score': 0.28}, {'connected_gene': 'LOC100132789', 'score': 0.25}, {'connected_gene': 'OSMR-AS1', 'score': 0.13}, {'connected_gene': 'LINC01265', 'score': 0.13}]
chr5 GH05I038757 38757887 38759621 0.31 [{'connected_gene': 'LIFR', 'score': 9.69}, {'connected_gene': 'LOC100132789', 'score': 0.44}, {'connected_gene': 'ENSG00000251189', 'score': 0.18}, {'connected_gene': 'OSMR-AS1', 'score': 0.17}, {'connected_gene': 'LINC01265', 'score': 0.17}]
chr5 GH05I039167 39167279 39167800 1.24 [{'connected_gene': 'FYB1', 'score': 17.78}, {'connected_gene': 'LINC01265', 'score': 17.76}, {'connected_gene': 'LIFR', 'score': 12.96}, {'connected_gene': 'OSMR', 'score': 11.45}, {'connected_gene': 'GOLGA5P1', 'score': 0.77}, {'connected_gene': 'GC05M039106', 'score': 0.21}]
chr5 GH05I039431 39431718 39434929 0.4 [{'connected_gene': 'DAB2', 'score': 11.5}, {'connected_gene': 'LIFR', 'score': 5.64}, {'connected_gene': 'C9', 'score': 0.44}]
chr5 GH05I038537 38537201 38537400 0.2 [{'connected_gene': 'LOC105374732', 'score': 11.14}, {'connected_gene': 'LIFR', 'score': 6.13}, {'connected_gene': 'LIFR-AS1', 'score': 0.37}]
chr5 GH05I038508 38508879 38509991 0.43 [{'connected_gene': 'LOC105374732', 'score': 10.96}, {'connected_gene': 'ENSG00000248234', 'score': 10.72}, {'connected_gene': 'EGFLAM-AS1', 'score': 10.71}, {'connected_gene': 'LIFR-AS1', 'score': 0.25}, {'connected_gene': 'LIFR', 'score': 0.15}]
chr5 GH05I038531 38531686 38536323 1.25 [{'connected_gene': 'LOC105374732', 'score': 11.14}, {'connected_gene': 'LIFR-AS1', 'score': 0.34}, {'connected_gene': 'LIFR', 'score': 0.19}]
chr5 GH05I038829 38829268 38833033 1.1 [{'connected_gene': 'LINC01265', 'score': 18.1}, {'connected_gene': 'RICTOR', 'score': 13.31}, {'connected_gene': 'LIFR', 'score': 13.01}, {'connected_gene': 'OSMR', 'score': 11.79}, {'connected_gene': 'OSMR-AS1', 'score': 0.39}, {'connected_gene': 'LOC105374733', 'score': 0.37}]
chr5 GH05I038659 38659693 38660988 1.19 [{'connected_gene': 'EGFLAM-AS1', 'score': 10.62}, {'connected_gene': 'ENSG00000248234', 'score': 10.62}, {'connected_gene': 'LIFR', 'score': 7.94}, {'connected_gene': 'ENSG00000251189', 'score': 0.34}, {'connected_gene': 'LIFR-AS1', 'score': 0.15}]
chr5 GH05I038163 38163260 38164282 0.87 [{'connected_gene': 'LIFR-AS1', 'score': 17.22}, {'connected_gene': 'C5orf42', 'score': 12.82}, {'connected_gene': 'LIFR', 'score': 12.06}, {'connected_gene': 'LINC02119', 'score': 0.37}, {'connected_gene': 'PRDX4P2', 'score': 0.29}, {'connected_gene': 'LINC02107', 'score': 0.12}]
chr5 GH05I038549 38549979 38550148 1.05 [{'connected_gene': 'LIFR-AS1', 'score': 17.6}, {'connected_gene': 'LIFR', 'score': 12.24}, {'connected_gene': 'LOC105374732', 'score': 0.18}]
chr5 GH05I038552 38552747 38553363 0.38 [{'connected_gene': 'LIFR-AS1', 'score': 0.77}, {'connected_gene': 'LIFR', 'score': 0.22}, {'connected_gene': 'LOC105374732', 'score': 0.18}]
chr5 GH05I038545 38545905 38549262 1.12 [{'connected_gene': 'LIFR-AS1', 'score': 0.44}, {'connected_gene': 'LIFR', 'score': 0.21}, {'connected_gene': 'LOC105374732', 'score': 0.18}]
chr5 GH05I038605 38605199 38605806 0.38 [{'connected_gene': 'LIFR-AS1', 'score': 5.0}, {'connected_gene': 'LIFR', 'score': 4.99}, {'connected_gene': 'GC05P038579', 'score': 0.31}]
chr5 GH05I038597 38597614 38603977 1.08 [{'connected_gene': 'LIFR-AS1', 'score': 10.69}, {'connected_gene': 'LIFR', 'score': 5.7}, {'connected_gene': 'GC05P038579', 'score': 0.34}]
chr5 GH05I038667 38667039 38667208 0.64 [{'connected_gene': 'ENSG00000251189', 'score': 0.39}, {'connected_gene': 'LIFR', 'score': 0.22}, {'connected_gene': 'LIFR-AS1', 'score': 0.14}]
chr5 GH05I038650 38650601 38652260 0.85 [{'connected_gene': 'ENSG00000251189', 'score': 9.45}, {'connected_gene': 'LIFR', 'score': 0.26}, {'connected_gene': 'LIFR-AS1', 'score': 0.16}]
chr5 GH05I038681 38681819 38681968 0.2 [{'connected_gene': 'ENSG00000251189', 'score': 550.77}, {'connected_gene': 'LIFR', 'score': 0.19}]
chr5 GH05I038680 38680270 38680596 0.33 [{'connected_gene': 'ENSG00000251189', 'score': 550.77}, {'connected_gene': 'LIFR', 'score': 1.51}]
chr5 GH05I038683 38680688 38680788 0.31 [{'connected_gene': 'ENSG00000251189', 'score': 550.77}, {'connected_gene': 'LIFR', 'score': 0.19}]
chr5 GH05I038682 38681519 38681668 0.2 [{'connected_gene': 'ENSG00000251189', 'score': 550.77}, {'connected_gene': 'GDNF-AS1', 'score': 5.78}, {'connected_gene': 'LIFR', 'score': 0.19}]

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