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
ENST00000255684 [[63273555, 63273999], [63276024, 63276113], [63276249, 63276463], [63277249, 63277369], [63277934, 63277973], [63279223, 63279312], [63283034, 63283185], [63283718, 63284239]] [[63273864, 63273999], [63276024, 63276113], [63276249, 63276463], [63277249, 63277369], [63277934, 63277973], [63279223, 63279312], [63283034, 63283185], [63283718, 63283865]]
ENST00000394618 [[63273573, 63273999], [63276024, 63276113], [63276249, 63276463], [63277249, 63277369], [63277934, 63277973], [63278550, 63278577], [63279223, 63279312], [63283034, 63283185], [63283718, 63284181]] [[63273864, 63273999], [63276024, 63276113], [63276249, 63276463], [63277249, 63277369], [63277934, 63277973], [63278550, 63278577], [63279223, 63279312], [63283034, 63283185], [63283718, 63283865]]
ENST00000340246 [[63273834, 63273999], [63276024, 63276113], [63276246, 63276463], [63277249, 63277369], [63277934, 63277973], [63278550, 63278577], [63279223, 63279312], [63283034, 63283185], [63283718, 63284246]] [[63273864, 63273999], [63276024, 63276113], [63276246, 63276463], [63277249, 63277369], [63277934, 63277973], [63278550, 63278577], [63279223, 63279312], [63283034, 63283185], [63283718, 63283865]]
ENST00000425950 [[63275458, 63276113], [63276249, 63276463], [63277249, 63277369], [63277934, 63277973], [63279223, 63279312], [63283034, 63283185], [63283718, 63284239]] [[63276072, 63276113], [63276249, 63276463], [63277249, 63277369], [63277934, 63277973], [63279223, 63279312], [63283034, 63283185], [63283718, 63283865]]
ENST00000415491 [[63275458, 63276113], [63276249, 63276463], [63277249, 63277369], [63277934, 63277973], [63278550, 63278577], [63279223, 63279312], [63283034, 63283185], [63283718, 63284239]] [[63276072, 63276113], [63276249, 63276463], [63277249, 63277369], [63277934, 63277973], [63278550, 63278577], [63279223, 63279312], [63283034, 63283185], [63283718, 63283865]]
NM_001142536 [[63273523, 63273999], [63276024, 63276113], [63276249, 63276463], [63277249, 63277369], [63277934, 63277973], [63279223, 63279312], [63283034, 63283185], [63283718, 63284246]] [[63273864, 63273999], [63276024, 63276113], [63276249, 63276463], [63277249, 63277369], [63277934, 63277973], [63279223, 63279312], [63283034, 63283185], [63283718, 63283865]]
NM_033101 [[63273523, 63273999], [63276024, 63276113], [63276249, 63276463], [63277249, 63277369], [63277934, 63277973], [63278550, 63278577], [63279223, 63279312], [63283034, 63283185], [63283718, 63284246]] [[63273864, 63273999], [63276024, 63276113], [63276249, 63276463], [63277249, 63277369], [63277934, 63277973], [63278550, 63278577], [63279223, 63279312], [63283034, 63283185], [63283718, 63283865]]
NM_001142535 [[63273523, 63273999], [63276024, 63276113], [63276246, 63276463], [63277249, 63277369], [63277934, 63277973], [63278550, 63278577], [63279223, 63279312], [63283034, 63283185], [63283718, 63284246]] [[63273864, 63273999], [63276024, 63276113], [63276246, 63276463], [63277249, 63277369], [63277934, 63277973], [63278550, 63278577], [63279223, 63279312], [63283034, 63283185], [63283718, 63283865]]
NM_001142538 [[63275458, 63276113], [63276249, 63276463], [63277249, 63277369], [63277934, 63277973], [63279223, 63279312], [63283034, 63283185], [63283718, 63284246]] [[63276072, 63276113], [63276249, 63276463], [63277249, 63277369], [63277934, 63277973], [63279223, 63279312], [63283034, 63283185], [63283718, 63283865]]
NM_001142537 [[63275458, 63276113], [63276249, 63276463], [63277249, 63277369], [63277934, 63277973], [63278550, 63278577], [63279223, 63279312], [63283034, 63283185], [63283718, 63284246]] [[63276072, 63276113], [63276249, 63276463], [63277249, 63277369], [63277934, 63277973], [63278550, 63278577], [63279223, 63279312], [63283034, 63283185], [63283718, 63283865]]
Promoter
Chrom Start End Description
chr11 63273520 63273537 CAGE_peak_2_at_LGALS12_5end
chr11 63273547 63273624 CAGE_peak_1_at_LGALS12_5end
chr11 63273633 63273644 CAGE_peak_3_at_LGALS12_5end
chr11 63273651 63273660 CAGE_peak_7_at_LGALS12_5end
chr11 63273668 63273679 CAGE_peak_5_at_LGALS12_5end
chr11 63273696 63273707 CAGE_peak_4_at_LGALS12_5end
chr11 63273811 63273822 CAGE_peak_6_at_LGALS12_5end
chr11 63273968 63273973 CAGE_peak_12_at_LGALS12_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I066352 66352281 66352470 0.56 [{'connected_gene': 'HELB', 'score': 20.93}, {'connected_gene': 'ENSG00000256072', 'score': 9.81}, {'connected_gene': 'LOC105369811', 'score': 0.39}, {'connected_gene': 'GRIP1', 'score': 0.03}]
chr12 GH12I066694 66694041 66694150 0.59 [{'connected_gene': 'HELB', 'score': 9.46}, {'connected_gene': 'GC12M066727', 'score': 0.23}, {'connected_gene': 'OSBPL9P4', 'score': 0.13}, {'connected_gene': 'GRIP1', 'score': 0.05}]
chr11 GH11I063509 63509892 63511572 0.82 [{'connected_gene': 'LGALS12', 'score': 8.04}, {'connected_gene': 'TMSB4XP5', 'score': 0.39}]
chr11 GH11I063504 63504801 63508432 1.74 [{'connected_gene': 'LGALS12', 'score': 563.23}, {'connected_gene': 'RARRES3', 'score': 11.95}, {'connected_gene': 'ENSG00000203520', 'score': 11.66}, {'connected_gene': 'PLA2G16', 'score': 11.66}, {'connected_gene': 'ENSG00000256789', 'score': 10.79}, {'connected_gene': 'ATL3', 'score': 10.16}, {'connected_gene': 'TMSB4XP5', 'score': 0.39}]
chr11 GH11I063505 63504401 63504788 0.78 [{'connected_gene': 'LGALS12', 'score': 550.77}, {'connected_gene': 'RARRES3', 'score': 11.95}, {'connected_gene': 'PLA2G16', 'score': 11.66}, {'connected_gene': 'ENSG00000203520', 'score': 11.66}, {'connected_gene': 'ENSG00000256789', 'score': 10.79}, {'connected_gene': 'ATL3', 'score': 10.16}, {'connected_gene': 'HRASLS5', 'score': 0.39}]
chr12 GH12I067067 67067729 67070564 1.29 [{'connected_gene': 'GRIP1', 'score': 557.26}, {'connected_gene': 'ENSG00000256248', 'score': 550.77}, {'connected_gene': 'CAND1', 'score': 15.09}, {'connected_gene': 'GGTA2P', 'score': 10.68}, {'connected_gene': 'ENSG00000279310', 'score': 0.77}, {'connected_gene': 'LOC102724421', 'score': 0.31}]
chr11 GH11I063608 63608180 63611400 1.41 [{'connected_gene': 'LGALS12', 'score': 25.34}, {'connected_gene': 'PLA2G16', 'score': 20.16}, {'connected_gene': 'HRASLS5', 'score': 1.95}, {'connected_gene': 'ENSG00000203520', 'score': 0.44}, {'connected_gene': 'LOC105369335', 'score': 0.29}, {'connected_gene': 'GC11M063550', 'score': 0.19}]
chr12 GH12I067082 67082396 67083018 0.31 [{'connected_gene': 'GRIP1', 'score': 12.94}, {'connected_gene': 'LOC102724421', 'score': 0.39}]
chr12 GH12I067077 67077362 67078485 0.2 [{'connected_gene': 'GRIP1', 'score': 0.44}, {'connected_gene': 'LOC102724421', 'score': 0.37}]
chr12 GH12I067090 67090975 67091846 0.46 [{'connected_gene': 'GRIP1', 'score': 11.09}, {'connected_gene': 'LOC102724421', 'score': 0.77}]
chr12 GH12I066678 66678801 66679400 0.99 [{'connected_gene': 'GRIP1', 'score': 550.05}, {'connected_gene': 'GC12M066727', 'score': 0.2}, {'connected_gene': 'OSBPL9P4', 'score': 0.14}]
chr12 GH12I066733 66733324 66735950 0.86 [{'connected_gene': 'GRIP1', 'score': 11.29}, {'connected_gene': 'ENSG00000256072', 'score': 9.84}, {'connected_gene': 'GC12M066727', 'score': 0.39}, {'connected_gene': 'OSBPL9P4', 'score': 0.1}]
chr12 GH12I066880 66880679 66880985 0.24 [{'connected_gene': 'GRIP1', 'score': 1.39}, {'connected_gene': 'GC12M066901', 'score': 0.34}, {'connected_gene': 'GC12M066727', 'score': 0.12}]
chr12 GH12I066823 66823294 66825010 0.88 [{'connected_gene': 'GRIP1', 'score': 5.11}, {'connected_gene': 'GC12M066727', 'score': 0.18}, {'connected_gene': 'GC12M066901', 'score': 0.18}]
chr12 GH12I066775 66775813 66777753 0.56 [{'connected_gene': 'GRIP1', 'score': 11.61}, {'connected_gene': 'GC12M066727', 'score': 0.29}, {'connected_gene': 'GC12M066901', 'score': 0.13}]
chr12 GH12I067019 67019201 67019400 0.2 [{'connected_gene': 'GRIP1', 'score': 0.25}, {'connected_gene': 'ENSG00000279310', 'score': 0.25}, {'connected_gene': 'GC12M066970', 'score': 0.25}, {'connected_gene': 'ENSG00000256248', 'score': 0.25}]
chr12 GH12I066861 66861261 66861410 0.6 [{'connected_gene': 'GRIP1', 'score': 16.49}, {'connected_gene': 'GC12M066901', 'score': 0.28}, {'connected_gene': 'GC12M066727', 'score': 0.13}]
chr12 GH12I066977 66977475 66977838 0.25 [{'connected_gene': 'GRIP1', 'score': 1.56}, {'connected_gene': 'GC12M066970', 'score': 0.44}, {'connected_gene': 'ENSG00000279310', 'score': 0.17}, {'connected_gene': 'ENSG00000256248', 'score': 0.16}]
chr12 GH12I066829 66829192 66830582 0.31 [{'connected_gene': 'GRIP1', 'score': 16.2}, {'connected_gene': 'GC12M066901', 'score': 0.19}, {'connected_gene': 'GC12M066727', 'score': 0.18}]
chr11 GH11I063494 63494821 63496061 0.69 [{'connected_gene': 'RARRES3', 'score': 11.92}, {'connected_gene': 'PLA2G16', 'score': 11.65}, {'connected_gene': 'ENSG00000203520', 'score': 11.65}, {'connected_gene': 'ENSG00000256789', 'score': 11.29}, {'connected_gene': 'ATL3', 'score': 10.15}, {'connected_gene': 'LGALS12', 'score': 6.51}, {'connected_gene': 'HRASLS5', 'score': 0.77}]
chr11 GH11I063502 63502053 63504338 1.02 [{'connected_gene': 'RARRES3', 'score': 11.95}, {'connected_gene': 'ENSG00000203520', 'score': 11.66}, {'connected_gene': 'PLA2G16', 'score': 11.66}, {'connected_gene': 'ENSG00000256789', 'score': 10.79}, {'connected_gene': 'ATL3', 'score': 10.16}, {'connected_gene': 'MARK2', 'score': 4.3}, {'connected_gene': 'RTN3', 'score': 3.23}, {'connected_gene': 'LGALS12', 'score': 2.03}, {'connected_gene': 'HRASLS5', 'score': 0.39}]
chr12 GH12I067039 67039378 67041088 0.74 [{'connected_gene': 'CAND1', 'score': 11.6}, {'connected_gene': 'GRIP1', 'score': 0.31}, {'connected_gene': 'ENSG00000279310', 'score': 0.31}, {'connected_gene': 'ENSG00000256248', 'score': 0.31}, {'connected_gene': 'LOC102724421', 'score': 0.22}, {'connected_gene': 'GC12M066970', 'score': 0.2}]
chr12 GH12I067034 67034484 67035330 0.49 [{'connected_gene': 'CAND1', 'score': 21.85}, {'connected_gene': 'GRIP1', 'score': 0.29}, {'connected_gene': 'ENSG00000279310', 'score': 0.29}, {'connected_gene': 'ENSG00000256248', 'score': 0.29}, {'connected_gene': 'GC12M066970', 'score': 0.21}]
chr11 GH11I063915 63915419 63921513 1.95 [{'connected_gene': 'RCOR2', 'score': 554.17}, {'connected_gene': 'OTUB1', 'score': 6.44}, {'connected_gene': 'LGALS12', 'score': 2.26}, {'connected_gene': 'GC11P063909', 'score': 0.44}, {'connected_gene': 'GC11M063921', 'score': 0.44}, {'connected_gene': 'GC11P063911', 'score': 0.44}]
chr11 GH11I063837 63837309 63843823 2.44 [{'connected_gene': 'MARK2', 'score': 556.33}, {'connected_gene': 'SF1', 'score': 20.23}, {'connected_gene': 'SNHG1', 'score': 17.0}, {'connected_gene': 'NAA40', 'score': 12.18}, {'connected_gene': 'RNU6-1306P', 'score': 12.03}, {'connected_gene': 'PLCB3', 'score': 11.12}, {'connected_gene': 'CCND2P1', 'score': 5.01}, {'connected_gene': 'COX8A', 'score': 4.78}, {'connected_gene': 'FERMT3', 'score': 3.57}, {'connected_gene': 'RTN3', 'score': 1.83}, {'connected_gene': 'LGALS12', 'score': 1.32}, {'connected_gene': 'GC11M063862', 'score': 0.34}]
chr11 GH11I063518 63518224 63519100 1 [{'connected_gene': 'PLA2G16', 'score': 11.3}, {'connected_gene': 'ENSG00000203520', 'score': 11.3}, {'connected_gene': 'HRASLS2', 'score': 11.21}, {'connected_gene': 'ENSG00000256789', 'score': 11.19}, {'connected_gene': 'ATL3', 'score': 9.76}, {'connected_gene': 'TMSB4XP5', 'score': 0.77}, {'connected_gene': 'LGALS12', 'score': 0.39}]
chr12 GH12I066442 66442021 66442170 0.43 [{'connected_gene': 'LOC105369811', 'score': 0.18}, {'connected_gene': 'GC12M066539', 'score': 0.15}, {'connected_gene': 'GRIP1', 'score': 0.03}]
chr12 GH12I066426 66426467 66427455 0.2 [{'connected_gene': 'LOC105369811', 'score': 0.21}, {'connected_gene': 'GC12M066539', 'score': 0.13}, {'connected_gene': 'GRIP1', 'score': 0.03}]
chr12 GH12I066449 66449681 66449790 0.2 [{'connected_gene': 'LOC105369811', 'score': 0.17}, {'connected_gene': 'GC12M066539', 'score': 0.16}, {'connected_gene': 'GRIP1', 'score': 0.03}]
chr12 GH12I067096 67096471 67097637 0.76 [{'connected_gene': 'LOC102724421', 'score': 550.77}, {'connected_gene': 'GRIP1', 'score': 12.77}, {'connected_gene': 'RAB11AP2', 'score': 0.28}]
chr12 GH12I066646 66646580 66648545 0.31 [{'connected_gene': 'OSBPL9P4', 'score': 0.18}, {'connected_gene': 'GC12M066727', 'score': 0.15}, {'connected_gene': 'GRIP1', 'score': 0.05}]
chr12 GH12I066616 66616467 66617470 0.57 [{'connected_gene': 'OSBPL9P4', 'score': 0.25}, {'connected_gene': 'GC12M066727', 'score': 0.13}, {'connected_gene': 'GRIP1', 'score': 0.05}]
chr12 GH12I066407 66407401 66408000 0.63 [{'connected_gene': 'ENSG00000256072', 'score': 10.5}, {'connected_gene': 'HELB', 'score': 10.48}, {'connected_gene': 'LOC105369811', 'score': 0.25}, {'connected_gene': 'GC12M066539', 'score': 0.12}, {'connected_gene': 'GRIP1', 'score': 0.03}]
chr12 GH12I067042 67042721 67042870 0.8 [{'connected_gene': 'ENSG00000279310', 'score': 0.34}, {'connected_gene': 'GRIP1', 'score': 0.31}, {'connected_gene': 'ENSG00000256248', 'score': 0.31}, {'connected_gene': 'LOC102724421', 'score': 0.23}, {'connected_gene': 'GC12M066970', 'score': 0.19}]
chr12 GH12I067027 67027021 67027170 0.43 [{'connected_gene': 'ENSG00000279310', 'score': 0.28}, {'connected_gene': 'GRIP1', 'score': 0.26}, {'connected_gene': 'ENSG00000256248', 'score': 0.26}, {'connected_gene': 'GC12M066970', 'score': 0.23}]
chr12 GH12I067026 67026621 67026770 0.2 [{'connected_gene': 'ENSG00000279310', 'score': 0.28}, {'connected_gene': 'GRIP1', 'score': 0.26}, {'connected_gene': 'ENSG00000256248', 'score': 0.26}, {'connected_gene': 'GC12M066970', 'score': 0.23}]
chr12 GH12I066786 66786623 66787749 0.31 [{'connected_gene': 'GC12M066727', 'score': 0.26}, {'connected_gene': 'GC12M066901', 'score': 0.14}, {'connected_gene': 'GRIP1', 'score': 0.06}]
chr12 GH12I066962 66962201 66962600 0.2 [{'connected_gene': 'GC12M066970', 'score': 0.39}, {'connected_gene': 'GC12M066901', 'score': 0.21}, {'connected_gene': 'GRIP1', 'score': 0.14}, {'connected_gene': 'ENSG00000256248', 'score': 0.14}]
chr12 GH12I067020 67019161 67019190 0.2 [{'connected_gene': 'ENSG00000279310', 'score': 0.25}, {'connected_gene': 'GC12M066970', 'score': 0.25}, {'connected_gene': 'ENSG00000256248', 'score': 0.25}, {'connected_gene': 'GRIP1', 'score': 0.23}]
chr12 GH12I066920 66920761 66921763 0.38 [{'connected_gene': 'GC12M066901', 'score': 0.34}, {'connected_gene': 'GC12M066970', 'score': 0.23}, {'connected_gene': 'GRIP1', 'score': 0.11}, {'connected_gene': 'ENSG00000256248', 'score': 0.11}]
chr12 GH12I066960 66960781 66961031 0.2 [{'connected_gene': 'GC12M066970', 'score': 0.39}, {'connected_gene': 'GC12M066901', 'score': 0.22}, {'connected_gene': 'GRIP1', 'score': 0.14}, {'connected_gene': 'ENSG00000256248', 'score': 0.14}]
chr12 GH12I066964 66961161 66961390 0.46 [{'connected_gene': 'GC12M066970', 'score': 0.39}, {'connected_gene': 'GC12M066901', 'score': 0.21}, {'connected_gene': 'GRIP1', 'score': 0.14}, {'connected_gene': 'ENSG00000256248', 'score': 0.14}]
chr12 GH12I066961 66961401 66961610 0.46 [{'connected_gene': 'GC12M066970', 'score': 0.39}, {'connected_gene': 'GC12M066901', 'score': 0.21}, {'connected_gene': 'GRIP1', 'score': 0.14}, {'connected_gene': 'ENSG00000256248', 'score': 0.14}]
chr12 GH12I066963 66963953 66965323 0.38 [{'connected_gene': 'GC12M066970', 'score': 0.44}, {'connected_gene': 'GC12M066901', 'score': 0.21}, {'connected_gene': 'GRIP1', 'score': 0.15}, {'connected_gene': 'ENSG00000256248', 'score': 0.15}]
chr12 GH12I067018 67018181 67018410 0.38 [{'connected_gene': 'ENSG00000279310', 'score': 0.25}, {'connected_gene': 'GC12M066970', 'score': 0.25}, {'connected_gene': 'GRIP1', 'score': 0.23}, {'connected_gene': 'ENSG00000256248', 'score': 0.23}]
chr12 GH12I066900 66900509 66901810 0.57 [{'connected_gene': 'GC12M066901', 'score': 550.77}, {'connected_gene': 'CAND1', 'score': 10.35}, {'connected_gene': 'GC12M066727', 'score': 0.1}, {'connected_gene': 'GRIP1', 'score': 0.1}, {'connected_gene': 'ENSG00000256248', 'score': 0.1}]
chr12 GH12I066495 66495745 66498000 0.69 [{'connected_gene': 'GC12M066539', 'score': 0.25}, {'connected_gene': 'LOC105369811', 'score': 0.12}, {'connected_gene': 'GRIP1', 'score': 0.03}]
chr12 GH12I066498 66498173 66498432 0.4 [{'connected_gene': 'GC12M066539', 'score': 0.25}, {'connected_gene': 'LOC105369811', 'score': 0.12}, {'connected_gene': 'GRIP1', 'score': 0.03}]
chr12 GH12I066409 66409201 66409550 0.74 [{'connected_gene': 'ENSG00000256072', 'score': 10.97}, {'connected_gene': 'LOC105369811', 'score': 0.25}, {'connected_gene': 'GC12M066539', 'score': 0.12}, {'connected_gene': 'GRIP1', 'score': 0.03}]
chr12 GH12I066713 66713723 66714254 0.4 [{'connected_gene': 'GC12M066727', 'score': 0.29}, {'connected_gene': 'OSBPL9P4', 'score': 0.11}, {'connected_gene': 'GRIP1', 'score': 0.05}]
chr12 GH12I066661 66661900 66663001 0.57 [{'connected_gene': 'GC12M066727', 'score': 0.18}, {'connected_gene': 'OSBPL9P4', 'score': 0.16}, {'connected_gene': 'GRIP1', 'score': 0.05}]
chr12 GH12I066714 66714361 66714413 0.2 [{'connected_gene': 'GC12M066727', 'score': 0.29}, {'connected_gene': 'OSBPL9P4', 'score': 0.11}, {'connected_gene': 'GRIP1', 'score': 0.05}]
chr12 GH12I066709 66709421 66709570 0.2 [{'connected_gene': 'GC12M066727', 'score': 0.28}, {'connected_gene': 'OSBPL9P4', 'score': 0.12}, {'connected_gene': 'GRIP1', 'score': 0.05}]

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