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
ENST00000460467 [[16844158, 16844596], [17051165, 17051578], [17052396, 17052576]] None
ENST00000396755 [[16926451, 16926865], [17051165, 17053652], [17056199, 17056403], [17084365, 17084441], [17109447, 17109557], [17122679, 17122736]] [[17051216, 17053652], [17056199, 17056403], [17084365, 17084441], [17109447, 17109557], [17122679, 17122736]]
ENST00000418129 [[16926451, 16926865], [17051165, 17053652], [17056199, 17056403], [17084365, 17084441], [17109447, 17109557], [17131224, 17132086]] [[17051216, 17053652], [17056199, 17056403], [17084365, 17084441], [17109447, 17109557], [17131224, 17131404]]
ENST00000432376 [[16974581, 16974783], [17051165, 17053652], [17056199, 17056403], [17084365, 17084441], [17109447, 17109557], [17131224, 17132085]] [[17051216, 17053652], [17056199, 17056403], [17084365, 17084441], [17109447, 17109557], [17131224, 17131404]]
ENST00000419842 [[17051985, 17053652], [17056199, 17056403], [17084365, 17084441], [17109447, 17109557], [17122679, 17123038]] [[17051985, 17053652], [17056199, 17056403], [17084365, 17084441], [17109447, 17109557], [17122679, 17122736]]
NM_001144382 [[16926451, 16926539], [16926540, 16926551], [16926553, 16926561], [16926562, 16926865], [17051165, 17053652], [17056199, 17056403], [17084365, 17084441], [17109447, 17109557], [17131224, 17132098]] [[16926534, 16926539], [16926540, 16926551], [16926553, 16926561], [16926562, 16926865], [17051165, 17053652], [17056199, 17056403], [17084365, 17084441], [17109447, 17109557], [17131224, 17131404]]
NM_015184 [[16974581, 16974783], [17051165, 17053652], [17056199, 17056403], [17084365, 17084441], [17109447, 17109557], [17131224, 17132098]] [[17051216, 17053652], [17056199, 17056403], [17084365, 17084441], [17109447, 17109557], [17131224, 17131404]]
Promoter
Chrom Start End Description
chr3 16844143 16844150 CAGE_peak_16_at_PLCL2_5end
chr3 16844153 16844164 CAGE_peak_7_at_PLCL2_5end
chr3 16844175 16844178 CAGE_peak_18_at_PLCL2_5end
chr3 16925999 16926015 CAGE_peak_6_at_PLCL2_5end
chr3 16926030 16926041 CAGE_peak_11_at_PLCL2_5end
chr3 16926062 16926073 CAGE_peak_10_at_PLCL2_5end
chr3 16926222 16926267 CAGE_peak_3_at_PLCL2_5end
chr3 16926280 16926295 CAGE_peak_8_at_PLCL2_5end
chr3 16926441 16926463 CAGE_peak_2_at_PLCL2_5end
chr3 16926464 16926475 CAGE_peak_5_at_PLCL2_5end
chr3 16926484 16926502 CAGE_peak_1_at_PLCL2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I016508 16507511 16507791 1.03 [{'connected_gene': 'OXNAD1', 'score': 9.15}, {'connected_gene': 'DPH3', 'score': 9.15}, {'connected_gene': 'RFTN1', 'score': 2.95}, {'connected_gene': 'PLCL2', 'score': 2.88}, {'connected_gene': 'GC03M015947', 'score': 0.39}]
chr3 GH03I016903 16903373 16907882 1.43 [{'connected_gene': 'PLCL2', 'score': 9.15}, {'connected_gene': 'RFTN1', 'score': 1.16}, {'connected_gene': 'LOC105376972', 'score': 0.34}, {'connected_gene': 'MIR3714', 'score': 0.31}]
chr3 GH03I016841 16841130 16845622 1.46 [{'connected_gene': 'PLCL2', 'score': 21.33}, {'connected_gene': 'ENSG00000271964', 'score': 4.31}, {'connected_gene': 'RFTN1', 'score': 1.52}, {'connected_gene': 'LOC105376972', 'score': 0.26}]
chr3 GH03I016725 16725955 16729810 0.49 [{'connected_gene': 'PLCL2', 'score': 4.65}, {'connected_gene': 'LOC105377641', 'score': 0.77}, {'connected_gene': 'GC03M016771', 'score': 0.25}]
chr3 GH03I016770 16769074 16769223 0.52 [{'connected_gene': 'PLCL2', 'score': 11.12}, {'connected_gene': 'GC03M016771', 'score': 0.77}, {'connected_gene': 'LOC105377641', 'score': 0.26}]
chr3 GH03I016740 16740532 16742526 0.69 [{'connected_gene': 'PLCL2', 'score': 4.36}, {'connected_gene': 'LOC105377641', 'score': 0.37}, {'connected_gene': 'GC03M016771', 'score': 0.29}]
chr3 GH03I016769 16769561 16770128 0.2 [{'connected_gene': 'PLCL2', 'score': 11.12}, {'connected_gene': 'GC03M016771', 'score': 0.77}, {'connected_gene': 'LOC105377641', 'score': 0.25}]
chr3 GH03I016883 16882877 16890157 2.15 [{'connected_gene': 'PLCL2', 'score': 562.71}, {'connected_gene': 'LOC105376972', 'score': 0.77}, {'connected_gene': 'MIR3714', 'score': 0.25}]
chr3 GH03I016900 16900645 16902117 0.74 [{'connected_gene': 'PLCL2', 'score': 11.37}, {'connected_gene': 'LOC105376972', 'score': 0.37}, {'connected_gene': 'MIR3714', 'score': 0.29}]
chr3 GH03I016816 16816161 16816303 0.83 [{'connected_gene': 'PLCL2', 'score': 0.39}, {'connected_gene': 'LOC105376972', 'score': 0.2}]
chr3 GH03I016823 16823766 16824594 0.76 [{'connected_gene': 'PLCL2', 'score': 17.75}, {'connected_gene': 'LOC105376972', 'score': 0.22}]
chr3 GH03I016848 16848814 16850672 0.97 [{'connected_gene': 'PLCL2', 'score': 16.88}, {'connected_gene': 'LOC105376972', 'score': 0.29}]
chr3 GH03I016837 16837378 16839366 1.3 [{'connected_gene': 'PLCL2', 'score': 6.17}, {'connected_gene': 'LOC105376972', 'score': 0.25}]
chr3 GH03I016828 16828801 16829201 0.72 [{'connected_gene': 'PLCL2', 'score': 16.76}, {'connected_gene': 'LOC105376972', 'score': 0.22}]
chr3 GH03I016895 16895743 16898799 1.21 [{'connected_gene': 'PLCL2', 'score': 11.6}, {'connected_gene': 'PLCL2-AS1', 'score': 10.81}, {'connected_gene': 'LOC105376972', 'score': 0.39}, {'connected_gene': 'MIR3714', 'score': 0.28}]
chr3 GH03I017151 17151295 17152932 1.23 [{'connected_gene': 'PLCL2', 'score': 2.21}, {'connected_gene': 'PIR61032', 'score': 0.44}, {'connected_gene': 'PLCL2-AS1', 'score': 0.14}]
chr3 GH03I016995 16995249 16995398 0.63 [{'connected_gene': 'PLCL2', 'score': 8.84}, {'connected_gene': 'GC03P016980', 'score': 0.39}, {'connected_gene': 'PLCL2-AS1', 'score': 0.25}]
chr3 GH03I017038 17038854 17041408 0.9 [{'connected_gene': 'PLCL2', 'score': 8.94}, {'connected_gene': 'PLCL2-AS1', 'score': 0.77}, {'connected_gene': 'GC03P016980', 'score': 0.22}]
chr3 GH03I017013 17013105 17016660 0.85 [{'connected_gene': 'PLCL2', 'score': 8.72}, {'connected_gene': 'PLCL2-AS1', 'score': 0.31}, {'connected_gene': 'GC03P016980', 'score': 0.29}]
chr3 GH03I017053 17052679 17053530 0.67 [{'connected_gene': 'PLCL2', 'score': 9.06}, {'connected_gene': 'PLCL2-AS1', 'score': 0.44}, {'connected_gene': 'PIR61032', 'score': 0.14}]
chr3 GH03I017047 17047018 17048039 0.63 [{'connected_gene': 'PLCL2', 'score': 10.03}, {'connected_gene': 'PLCL2-AS1', 'score': 0.77}, {'connected_gene': 'PIR61032', 'score': 0.14}]
chr3 GH03I016929 16929112 16930235 0.38 [{'connected_gene': 'PLCL2', 'score': 5.81}, {'connected_gene': 'MIR3714', 'score': 0.77}, {'connected_gene': 'LOC105376972', 'score': 0.25}]
chr3 GH03I016916 16916361 16918001 0.86 [{'connected_gene': 'PLCL2', 'score': 9.15}, {'connected_gene': 'MIR3714', 'score': 0.37}, {'connected_gene': 'LOC105376972', 'score': 0.29}]
chr3 GH03I016919 16919532 16919989 0.2 [{'connected_gene': 'PLCL2', 'score': 6.59}, {'connected_gene': 'MIR3714', 'score': 0.39}, {'connected_gene': 'LOC105376972', 'score': 0.28}]
chr3 GH03I016934 16933001 16933200 0.9 [{'connected_gene': 'PLCL2', 'score': 558.02}, {'connected_gene': 'MIR3714', 'score': 550.77}, {'connected_gene': 'LOC105376972', 'score': 0.25}]
chr3 GH03I016922 16922974 16923728 0.43 [{'connected_gene': 'PLCL2', 'score': 4.71}, {'connected_gene': 'MIR3714', 'score': 0.44}, {'connected_gene': 'LOC105376972', 'score': 0.28}]
chr3 GH03I016909 16909673 16910998 0.31 [{'connected_gene': 'PLCL2', 'score': 7.0}, {'connected_gene': 'MIR3714', 'score': 0.34}, {'connected_gene': 'LOC105376972', 'score': 0.31}]
chr3 GH03I016978 16978401 16978600 0.2 [{'connected_gene': 'PLCL2', 'score': 9.56}, {'connected_gene': 'GC03P016980', 'score': 0.77}, {'connected_gene': 'MIR3714', 'score': 0.25}]
chr3 GH03I016936 16936925 16937915 0.38 [{'connected_gene': 'PLCL2', 'score': 8.1}, {'connected_gene': 'MIR3714', 'score': 0.77}, {'connected_gene': 'GC03P016980', 'score': 0.26}]
chr3 GH03I016942 16942776 16943550 0.43 [{'connected_gene': 'PLCL2', 'score': 12.27}, {'connected_gene': 'MIR3714', 'score': 0.44}, {'connected_gene': 'GC03P016980', 'score': 0.28}]
chr3 GH03I017400 17400434 17400680 0.28 [{'connected_gene': 'PLCL2', 'score': 2.16}, {'connected_gene': 'GC03P017407', 'score': 0.44}, {'connected_gene': 'GC03P017354', 'score': 0.25}]
chr3 GH03I016789 16789505 16790423 0.31 [{'connected_gene': 'PLCL2', 'score': 0.39}, {'connected_gene': 'GC03M016771', 'score': 0.37}]
chr3 GH03I016801 16801144 16802399 1.02 [{'connected_gene': 'PLCL2', 'score': 555.08}, {'connected_gene': 'GC03M016771', 'score': 0.31}]
chr3 GH03I016507 16507908 16517208 2.68 [{'connected_gene': 'RFTN1', 'score': 566.03}, {'connected_gene': 'OXNAD1', 'score': 15.44}, {'connected_gene': 'DPH3', 'score': 11.59}, {'connected_gene': 'PLCL2', 'score': 2.44}, {'connected_gene': 'GC03M015947', 'score': 0.37}]
chr3 GH03I016467 16467107 16469948 1.3 [{'connected_gene': 'RFTN1', 'score': 23.24}, {'connected_gene': 'PLCL2', 'score': 2.22}, {'connected_gene': 'DPH3', 'score': 1.14}, {'connected_gene': 'GC03P016476', 'score': 0.44}, {'connected_gene': 'GC03M015947', 'score': 0.31}, {'connected_gene': 'ENSG00000272529', 'score': 0.13}]
chr3 GH03I016503 16503958 16504775 1.22 [{'connected_gene': 'RFTN1', 'score': 13.8}, {'connected_gene': 'PLCL2', 'score': 1.27}, {'connected_gene': 'GC03M015947', 'score': 0.44}]
chr3 GH03I016878 16878494 16878509 0.22 [{'connected_gene': 'LOC105376972', 'score': 0.44}, {'connected_gene': 'PLCL2', 'score': 0.18}]
chr3 GH03I016846 16846601 16847400 0.43 [{'connected_gene': 'LOC105376972', 'score': 0.28}, {'connected_gene': 'PLCL2', 'score': 0.26}]
chr3 GH03I016864 16864095 16865819 0.46 [{'connected_gene': 'LOC105376972', 'score': 0.37}, {'connected_gene': 'PLCL2', 'score': 0.21}]
chr3 GH03I016866 16866750 16866919 0.43 [{'connected_gene': 'LOC105376972', 'score': 0.37}, {'connected_gene': 'PLCL2', 'score': 0.21}]
chr3 GH03I016882 16882166 16882650 0.4 [{'connected_gene': 'LOC105376972', 'score': 550.77}, {'connected_gene': 'PLCL2', 'score': 0.18}]
chr3 GH03I016908 16908401 16908800 0.51 [{'connected_gene': 'LOC105376972', 'score': 0.34}, {'connected_gene': 'MIR3714', 'score': 0.34}, {'connected_gene': 'PLCL2', 'score': 0.14}]
chr3 GH03I016891 16891001 16891200 0.63 [{'connected_gene': 'LOC105376972', 'score': 0.44}, {'connected_gene': 'MIR3714', 'score': 0.26}, {'connected_gene': 'PLCL2', 'score': 0.17}]
chr3 GH03I016939 16939685 16942774 0.49 [{'connected_gene': 'PLCL2-AS1', 'score': 11.21}, {'connected_gene': 'PLCL2', 'score': 9.91}, {'connected_gene': 'MIR3714', 'score': 0.44}, {'connected_gene': 'GC03P016980', 'score': 0.28}]
chr3 GH03I017021 17021702 17021999 0.27 [{'connected_gene': 'PLCL2-AS1', 'score': 10.8}, {'connected_gene': 'GC03P016980', 'score': 0.26}, {'connected_gene': 'PLCL2', 'score': 0.08}]
chr3 GH03I016993 16993389 16993478 0.54 [{'connected_gene': 'PLCL2-AS1', 'score': 11.42}, {'connected_gene': 'GC03P016980', 'score': 0.39}, {'connected_gene': 'PLCL2', 'score': 0.08}]
chr3 GH03I017054 17054806 17056938 0.96 [{'connected_gene': 'PLCL2-AS1', 'score': 0.39}, {'connected_gene': 'PIR61032', 'score': 0.15}, {'connected_gene': 'PLCL2', 'score': 0.07}]
chr3 GH03I017022 17022438 17023415 0.93 [{'connected_gene': 'PLCL2-AS1', 'score': 10.87}, {'connected_gene': 'PLCL2', 'score': 8.62}, {'connected_gene': 'GC03P016980', 'score': 0.26}]
chr3 GH03I017048 17048109 17048238 0.52 [{'connected_gene': 'PLCL2-AS1', 'score': 0.77}, {'connected_gene': 'PIR61032', 'score': 0.14}, {'connected_gene': 'PLCL2', 'score': 0.07}]
chr3 GH03I017052 17052234 17052616 0.74 [{'connected_gene': 'PLCL2-AS1', 'score': 0.44}, {'connected_gene': 'PIR61032', 'score': 0.14}, {'connected_gene': 'PLCL2', 'score': 0.07}]
chr3 GH03I017088 17088626 17089558 0.38 [{'connected_gene': 'PLCL2-AS1', 'score': 0.26}, {'connected_gene': 'PIR61032', 'score': 0.2}, {'connected_gene': 'PLCL2', 'score': 0.06}]
chr3 GH03I016937 16936369 16936518 0.84 [{'connected_gene': 'MIR3714', 'score': 0.77}, {'connected_gene': 'GC03P016980', 'score': 0.26}, {'connected_gene': 'PLCL2', 'score': 0.12}]
chr3 GH03I016944 16944044 16944759 0.43 [{'connected_gene': 'MIR3714', 'score': 0.39}, {'connected_gene': 'GC03P016980', 'score': 0.28}, {'connected_gene': 'PLCL2', 'score': 0.11}]
chr3 GH03I016945 16945837 16946357 0.46 [{'connected_gene': 'MIR3714', 'score': 0.39}, {'connected_gene': 'GC03P016980', 'score': 0.29}, {'connected_gene': 'PLCL2', 'score': 0.11}]
chr3 GH03I016933 16933932 16934825 0.2 [{'connected_gene': 'MIR3714', 'score': 550.77}, {'connected_gene': 'GC03P016980', 'score': 0.25}, {'connected_gene': 'PLCL2', 'score': 0.12}]
chr3 GH03I016918 16918374 16918940 0.63 [{'connected_gene': 'MIR3714', 'score': 0.39}, {'connected_gene': 'LOC105376972', 'score': 0.29}, {'connected_gene': 'PLCL2', 'score': 0.13}]
chr3 GH03I016912 16912046 16913571 0.95 [{'connected_gene': 'MIR3714', 'score': 0.34}, {'connected_gene': 'LOC105376972', 'score': 0.31}, {'connected_gene': 'PLCL2', 'score': 0.14}]
chr3 GH03I016784 16784581 16785872 0.46 [{'connected_gene': 'GC03M016771', 'score': 0.39}, {'connected_gene': 'PLCL2', 'score': 0.37}]