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
ENST00000369046 [[107077452, 107077580], [107088223, 107088383], [107088697, 107088796], [107090868, 107090965], [107096899, 107097076], [107100083, 107100259], [107100341, 107100457], [107102604, 107102797], [107103489, 107103607], [107110854, 107111060], [107113656, 107116292]] [[107077556, 107077580], [107088223, 107088383], [107088697, 107088796], [107090868, 107090965], [107096899, 107097076], [107100083, 107100259], [107100341, 107100457], [107102604, 107102797], [107103489, 107103607], [107110854, 107111060], [107113656, 107113877]]
ENST00000467262 [[107077473, 107077580], [107087975, 107088081], [107088223, 107088383], [107088697, 107088737]] None
ENST00000369044 [[107077488, 107077580], [107088223, 107088383], [107088697, 107088796], [107090868, 107090965], [107096899, 107097076], [107100083, 107100259], [107100341, 107101698]] [[107077556, 107077580], [107088223, 107088383], [107088697, 107088796], [107090868, 107090965], [107096899, 107097076], [107100083, 107100259], [107100341, 107100568]]
NM_018292 [[107077440, 107077580], [107088223, 107088383], [107088697, 107088796], [107090868, 107090965], [107096899, 107097076], [107100083, 107100259], [107100341, 107100457], [107102604, 107102797], [107103489, 107103607], [107110854, 107111060], [107113656, 107116292]] [[107077556, 107077580], [107088223, 107088383], [107088697, 107088796], [107090868, 107090965], [107096899, 107097076], [107100083, 107100259], [107100341, 107100457], [107102604, 107102797], [107103489, 107103607], [107110854, 107111060], [107113656, 107113877]]
Promoter
Chrom Start End Description
chr6 107077435 107077464 CAGE_peak_1_at_QRSL1_5end
chr6 107077471 107077494 CAGE_peak_2_at_QRSL1_5end
chr6 107077505 107077520 CAGE_peak_3_at_QRSL1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I106556 106556506 106556635 0.74 [{'connected_gene': 'ATG5', 'score': 10.16}, {'connected_gene': 'QRSL1', 'score': 6.39}, {'connected_gene': 'GC06P106541', 'score': 0.37}, {'connected_gene': 'GC06P106588', 'score': 0.29}, {'connected_gene': 'CRYBG1', 'score': 0.08}]
chr6 GH06I106609 106609846 106609975 0.46 [{'connected_gene': 'RTN4IP1', 'score': 12.32}, {'connected_gene': 'LINC02532', 'score': 10.27}, {'connected_gene': 'MIR587', 'score': 10.26}, {'connected_gene': 'RNU6-527P', 'score': 0.77}, {'connected_gene': 'QRSL1', 'score': 0.37}]
chr6 GH06I106781 106781353 106784941 1.21 [{'connected_gene': 'MIR587', 'score': 550.77}, {'connected_gene': 'GC06P106787', 'score': 550.77}, {'connected_gene': 'GC06P106785', 'score': 550.77}, {'connected_gene': 'QRSL1', 'score': 6.98}, {'connected_gene': 'LINC02532', 'score': 0.77}, {'connected_gene': 'GC06M106747', 'score': 0.31}, {'connected_gene': 'RNU6-117P', 'score': 0.26}]
chr6 GH06I106729 106729695 106732672 1.45 [{'connected_gene': 'MIR587', 'score': 10.86}, {'connected_gene': 'LINC02532', 'score': 10.85}, {'connected_gene': 'QRSL1', 'score': 7.57}, {'connected_gene': 'BEND3', 'score': 1.23}, {'connected_gene': 'GC06M106741', 'score': 0.44}, {'connected_gene': 'LOC105377927', 'score': 0.31}]
chr6 GH06I106744 106744093 106748056 1.24 [{'connected_gene': 'MIR587', 'score': 11.42}, {'connected_gene': 'LINC02532', 'score': 11.4}, {'connected_gene': 'QRSL1', 'score': 5.71}, {'connected_gene': 'RNU6-117P', 'score': 0.44}, {'connected_gene': 'GC06P106787', 'score': 0.28}, {'connected_gene': 'GC06M106747', 'score': 0.21}]
chr6 GH06I106741 106741218 106742007 0.2 [{'connected_gene': 'MIR587', 'score': 10.58}, {'connected_gene': 'LINC02532', 'score': 10.57}, {'connected_gene': 'QRSL1', 'score': 6.74}, {'connected_gene': 'RNU6-117P', 'score': 0.77}, {'connected_gene': 'GC06P106787', 'score': 0.26}]
chr6 GH06I106736 106736297 106737125 0.63 [{'connected_gene': 'MIR587', 'score': 10.87}, {'connected_gene': 'LINC02532', 'score': 10.86}, {'connected_gene': 'QRSL1', 'score': 7.47}, {'connected_gene': 'GC06M106741', 'score': 0.77}, {'connected_gene': 'LOC105377927', 'score': 0.29}]
chr6 GH06I106692 106692001 106693591 0.84 [{'connected_gene': 'MIR587', 'score': 10.19}, {'connected_gene': 'LINC02532', 'score': 10.19}, {'connected_gene': 'QRSL1', 'score': 8.55}, {'connected_gene': 'LINC02526', 'score': 6.54}, {'connected_gene': 'LOC105377927', 'score': 0.39}]
chr6 GH06I106694 106694243 106694539 0.2 [{'connected_gene': 'MIR587', 'score': 10.2}, {'connected_gene': 'LINC02532', 'score': 10.19}, {'connected_gene': 'QRSL1', 'score': 5.92}, {'connected_gene': 'LINC02526', 'score': 0.44}, {'connected_gene': 'LOC105377927', 'score': 0.44}]
chr6 GH06I106509 106509487 106517200 2.38 [{'connected_gene': 'BEND3', 'score': 20.41}, {'connected_gene': 'SOBP', 'score': 20.03}, {'connected_gene': 'ATG5', 'score': 19.43}, {'connected_gene': 'CRYBG1', 'score': 12.85}, {'connected_gene': 'QRSL1', 'score': 9.18}, {'connected_gene': 'LOC101927405', 'score': 0.39}, {'connected_gene': 'GC06P106528', 'score': 0.37}]
chr6 GH06I106590 106590735 106592530 0.71 [{'connected_gene': 'QRSL1', 'score': 42.9}, {'connected_gene': 'RTN4IP1', 'score': 10.76}, {'connected_gene': 'MIR587', 'score': 10.02}, {'connected_gene': 'LINC02532', 'score': 10.02}, {'connected_gene': 'GC06P106588', 'score': 0.77}, {'connected_gene': 'GC06P106608', 'score': 0.37}]
chr6 GH06I106574 106574346 106575645 1.33 [{'connected_gene': 'QRSL1', 'score': 19.76}, {'connected_gene': 'RTN4IP1', 'score': 10.64}, {'connected_gene': 'PRDM1', 'score': 6.05}, {'connected_gene': 'GC06P106588', 'score': 0.39}, {'connected_gene': 'GC06P106541', 'score': 0.29}]
chr6 GH06I106628 106628089 106631036 2.21 [{'connected_gene': 'QRSL1', 'score': 622.31}, {'connected_gene': 'RTN4IP1', 'score': 550.77}, {'connected_gene': 'CRYBG1', 'score': 6.53}, {'connected_gene': 'RNU6-527P', 'score': 0.34}]
chr6 GH06I106572 106572090 106573966 0.31 [{'connected_gene': 'QRSL1', 'score': 17.21}, {'connected_gene': 'RTN4IP1', 'score': 10.64}, {'connected_gene': 'CRYBG1', 'score': 6.7}, {'connected_gene': 'GC06P106588', 'score': 0.37}, {'connected_gene': 'GC06P106541', 'score': 0.29}]
chr6 GH06I106567 106567093 106571055 0.38 [{'connected_gene': 'QRSL1', 'score': 31.87}, {'connected_gene': 'RTN4IP1', 'score': 10.61}, {'connected_gene': 'CRYBG1', 'score': 6.8}, {'connected_gene': 'GC06P106588', 'score': 0.37}, {'connected_gene': 'GC06P106541', 'score': 0.31}]
chr6 GH06I106557 106557463 106558943 0.94 [{'connected_gene': 'QRSL1', 'score': 25.17}, {'connected_gene': 'RTN4IP1', 'score': 10.06}, {'connected_gene': 'GC06P106541', 'score': 0.37}, {'connected_gene': 'GC06P106588', 'score': 0.29}, {'connected_gene': 'CRYBG1', 'score': 0.08}]
chr6 GH06I106561 106561006 106563166 0.99 [{'connected_gene': 'QRSL1', 'score': 16.68}, {'connected_gene': 'RTN4IP1', 'score': 10.07}, {'connected_gene': 'GC06P106541', 'score': 0.34}, {'connected_gene': 'GC06P106588', 'score': 0.31}, {'connected_gene': 'CRYBG1', 'score': 0.08}]
chr6 GH06I106621 106621111 106621756 0.52 [{'connected_gene': 'QRSL1', 'score': 13.94}, {'connected_gene': 'RTN4IP1', 'score': 0.44}, {'connected_gene': 'RNU6-527P', 'score': 0.39}]
chr6 GH06I106674 106674155 106676091 0.38 [{'connected_gene': 'QRSL1', 'score': 51.69}, {'connected_gene': 'RTN4IP1', 'score': 10.61}, {'connected_gene': 'GC06P106672', 'score': 0.77}, {'connected_gene': 'LINC02526', 'score': 0.39}]
chr6 GH06I106599 106599203 106599468 0.42 [{'connected_gene': 'QRSL1', 'score': 15.42}, {'connected_gene': 'BEND3', 'score': 4.17}, {'connected_gene': 'GC06P106608', 'score': 0.44}, {'connected_gene': 'GC06P106588', 'score': 0.39}, {'connected_gene': 'RTN4IP1', 'score': 0.29}]
chr6 GH06I106544 106544828 106548819 1.17 [{'connected_gene': 'QRSL1', 'score': 15.42}, {'connected_gene': 'CRYBG1', 'score': 6.91}, {'connected_gene': 'GC06P106541', 'score': 0.44}, {'connected_gene': 'GC06P106588', 'score': 0.26}]
chr6 GH06I106548 106548948 106554780 0.49 [{'connected_gene': 'QRSL1', 'score': 22.88}, {'connected_gene': 'CRYBG1', 'score': 6.74}, {'connected_gene': 'GC06P106541', 'score': 0.39}, {'connected_gene': 'GC06P106588', 'score': 0.28}]
chr6 GH06I106566 106566646 106566795 0.86 [{'connected_gene': 'QRSL1', 'score': 6.21}, {'connected_gene': 'GC06P106588', 'score': 0.34}, {'connected_gene': 'GC06P106541', 'score': 0.31}, {'connected_gene': 'CRYBG1', 'score': 0.08}]
chr6 GH06I106535 106535058 106535907 0.2 [{'connected_gene': 'QRSL1', 'score': 12.39}, {'connected_gene': 'GC06P106538', 'score': 0.77}, {'connected_gene': 'GC06P106528', 'score': 0.44}, {'connected_gene': 'CRYBG1', 'score': 0.09}]
chr6 GH06I106445 106445026 106445175 0.81 [{'connected_gene': 'QRSL1', 'score': 4.59}, {'connected_gene': 'GC06P106450', 'score': 0.77}, {'connected_gene': 'GC06M106404', 'score': 0.37}, {'connected_gene': 'ENSG00000207499', 'score': 0.34}, {'connected_gene': 'CRYBG1', 'score': 0.18}]
chr6 GH06I106613 106613111 106614936 0.66 [{'connected_gene': 'QRSL1', 'score': 9.22}, {'connected_gene': 'RNU6-527P', 'score': 0.44}, {'connected_gene': 'RTN4IP1', 'score': 0.37}]
chr6 GH06I106636 106636464 106639030 1.08 [{'connected_gene': 'QRSL1', 'score': 21.32}, {'connected_gene': 'RNU6-527P', 'score': 12.17}, {'connected_gene': 'LINC02532', 'score': 10.45}, {'connected_gene': 'MIR587', 'score': 10.35}, {'connected_gene': 'RPL21P65', 'score': 0.77}, {'connected_gene': 'RTN4IP1', 'score': 0.44}]
chr6 GH06I106727 106727373 106728916 0.66 [{'connected_gene': 'QRSL1', 'score': 12.78}, {'connected_gene': 'LINC02526', 'score': 4.77}, {'connected_gene': 'GC06M106741', 'score': 0.39}, {'connected_gene': 'LOC105377927', 'score': 0.31}, {'connected_gene': 'LINC02532', 'score': 0.22}]
chr6 GH06I106648 106648117 106650524 0.31 [{'connected_gene': 'QRSL1', 'score': 44.01}, {'connected_gene': 'LINC02532', 'score': 10.7}, {'connected_gene': 'MIR587', 'score': 10.69}, {'connected_gene': 'RPL21P65', 'score': 0.44}, {'connected_gene': 'GC06P106672', 'score': 0.34}]
chr6 GH06I106666 106666544 106667939 0.8 [{'connected_gene': 'QRSL1', 'score': 43.8}, {'connected_gene': 'GC06P106672', 'score': 0.44}, {'connected_gene': 'RPL21P65', 'score': 0.34}]
chr6 GH06I106997 106997192 106999045 0.68 [{'connected_gene': 'C6orf203', 'score': 12.01}, {'connected_gene': 'QRSL1', 'score': 10.05}, {'connected_gene': 'RTN4IP1', 'score': 10.05}, {'connected_gene': 'CD24', 'score': 0.34}]
chr6 GH06I106517 106517601 106529342 1.68 [{'connected_gene': 'CRYBG1', 'score': 16.05}, {'connected_gene': 'PRDM1', 'score': 8.77}, {'connected_gene': 'QRSL1', 'score': 7.33}, {'connected_gene': 'ATG5', 'score': 2.95}, {'connected_gene': 'GC06P106528', 'score': 0.44}, {'connected_gene': 'LOC101927405', 'score': 0.34}]
chr6 GH06I106496 106496623 106497627 0.83 [{'connected_gene': 'CRYBG1', 'score': 17.26}, {'connected_gene': 'QRSL1', 'score': 9.51}, {'connected_gene': 'LOC101927405', 'score': 0.44}, {'connected_gene': 'GC06M106404', 'score': 0.28}]
chr6 GH06I106489 106489924 106491548 0.49 [{'connected_gene': 'CRYBG1', 'score': 15.6}, {'connected_gene': 'QRSL1', 'score': 4.5}, {'connected_gene': 'LOC101927405', 'score': 0.39}, {'connected_gene': 'GC06M106404', 'score': 0.29}]
chr6 GH06I106608 106608206 106608355 0.68 [{'connected_gene': 'RNU6-527P', 'score': 550.77}, {'connected_gene': 'GC06P106608', 'score': 550.77}, {'connected_gene': 'QRSL1', 'score': 0.34}, {'connected_gene': 'RTN4IP1', 'score': 0.34}]
chr6 GH06I106614 106614986 106615195 0.63 [{'connected_gene': 'RNU6-527P', 'score': 0.44}, {'connected_gene': 'QRSL1', 'score': 0.39}, {'connected_gene': 'RTN4IP1', 'score': 0.37}]
chr6 GH06I106701 106701431 106704079 1.11 [{'connected_gene': 'LOC105377927', 'score': 550.77}, {'connected_gene': 'QRSL1', 'score': 16.16}, {'connected_gene': 'MIR587', 'score': 10.63}, {'connected_gene': 'LINC02532', 'score': 10.63}, {'connected_gene': 'LINC02526', 'score': 0.37}]
chr6 GH06I106688 106688326 106688455 0.67 [{'connected_gene': 'LINC02526', 'score': 550.77}, {'connected_gene': 'QRSL1', 'score': 10.48}, {'connected_gene': 'LOC105377927', 'score': 0.39}]
chr6 GH06I106682 106682768 106684435 0.2 [{'connected_gene': 'LINC02526', 'score': 5.24}, {'connected_gene': 'QRSL1', 'score': 5.21}, {'connected_gene': 'GC06P106672', 'score': 0.39}]
chr6 GH06I106501 106501401 106503400 0.71 [{'connected_gene': 'LOC101927405', 'score': 550.77}, {'connected_gene': 'QRSL1', 'score': 19.37}, {'connected_gene': 'CRYBG1', 'score': 17.25}, {'connected_gene': 'RTN4IP1', 'score': 9.71}, {'connected_gene': 'GC06P106528', 'score': 0.31}]
chr6 GH06I106748 106748118 106752499 1.12 [{'connected_gene': 'LINC02532', 'score': 17.5}, {'connected_gene': 'MIR587', 'score': 11.51}, {'connected_gene': 'QRSL1', 'score': 6.81}, {'connected_gene': 'CRYBG1', 'score': 6.43}, {'connected_gene': 'RNU6-117P', 'score': 0.39}, {'connected_gene': 'GC06P106787', 'score': 0.29}, {'connected_gene': 'GC06M106747', 'score': 0.22}]
chr6 GH06I106585 106585743 106587952 0.2 [{'connected_gene': 'GC06P106588', 'score': 550.77}, {'connected_gene': 'QRSL1', 'score': 43.37}, {'connected_gene': 'RTN4IP1', 'score': 10.57}, {'connected_gene': 'CRYBG1', 'score': 7.06}, {'connected_gene': 'GC06P106541', 'score': 0.25}]
chr6 GH06I106671 106671167 106673271 0.38 [{'connected_gene': 'GC06P106672', 'score': 550.77}, {'connected_gene': 'QRSL1', 'score': 53.07}, {'connected_gene': 'RTN4IP1', 'score': 10.48}, {'connected_gene': 'RPL21P65', 'score': 0.31}]
chr6 GH06I106536 106536602 106538600 0.72 [{'connected_gene': 'GC06P106538', 'score': 550.77}, {'connected_gene': 'QRSL1', 'score': 14.62}, {'connected_gene': 'CRYBG1', 'score': 7.36}, {'connected_gene': 'SOBP', 'score': 5.3}, {'connected_gene': 'GC06P106528', 'score': 0.44}]
chr6 GH06I106539 106539945 106541919 1.1 [{'connected_gene': 'GC06P106541', 'score': 550.77}, {'connected_gene': 'CRYBG1', 'score': 7.58}, {'connected_gene': 'QRSL1', 'score': 7.46}, {'connected_gene': 'GC06P106538', 'score': 0.77}]
chr6 GH06I106660 106660026 106660175 0.4 [{'connected_gene': 'GC06P106672', 'score': 0.39}, {'connected_gene': 'RPL21P65', 'score': 0.37}, {'connected_gene': 'QRSL1', 'score': 0.29}]
chr6 GH06I106662 106662407 106663859 0.31 [{'connected_gene': 'GC06P106672', 'score': 0.44}, {'connected_gene': 'RPL21P65', 'score': 0.34}, {'connected_gene': 'QRSL1', 'score': 0.29}]

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