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
ENST00000524892 [[100558383, 100558563], [100641073, 100641169], [100665835, 100665897], [100730284, 100730356], [100792224, 100792335], [100803886, 100803991], [100806933, 100807063], [100812514, 100812615], [100814489, 100814599], [100819187, 100819266], [100820647, 100820687], [100830613, 100830676], [100831645, 100831720], [100832414, 100832499], [100833139, 100833198], [100836401, 100836507], [100843905, 100844065], [100845189, 100845334], [100846787, 100847168], [100847545, 100847702], [100849717, 100849780], [100858243, 100858323], [100859443, 100862668]] [[100558409, 100558563], [100641073, 100641169], [100665835, 100665897], [100730284, 100730356], [100792224, 100792335], [100803886, 100803991], [100806933, 100807063], [100812514, 100812615], [100814489, 100814599], [100819187, 100819266], [100820647, 100820687], [100830613, 100830676], [100831645, 100831720], [100832414, 100832499], [100833139, 100833198], [100836401, 100836507], [100843905, 100844065], [100845189, 100845334], [100846787, 100847168], [100847545, 100847702], [100849717, 100849780], [100858243, 100858323], [100859443, 100859532]]
ENST00000298815 [[100558406, 100558563], [100641073, 100641169], [100665835, 100665897], [100730284, 100730356], [100784182, 100784284], [100792224, 100792335], [100803886, 100803991], [100806933, 100807063], [100812514, 100812615], [100814489, 100814599], [100819187, 100819266], [100820647, 100820687], [100830613, 100830676], [100831645, 100831720], [100832414, 100832499], [100833139, 100833198], [100836401, 100836507], [100843905, 100844065], [100845189, 100845334], [100846787, 100847168], [100847545, 100847702], [100849717, 100849780], [100858243, 100858323], [100859443, 100861656]] [[100558409, 100558563], [100641073, 100641169], [100665835, 100665897], [100730284, 100730356], [100784182, 100784284], [100792224, 100792335], [100803886, 100803991], [100806933, 100807063], [100812514, 100812615], [100814489, 100814599], [100819187, 100819266], [100820647, 100820687], [100830613, 100830676], [100831645, 100831720], [100832414, 100832499], [100833139, 100833198], [100836401, 100836507], [100843905, 100844065], [100845189, 100845334], [100846787, 100847168], [100847545, 100847702], [100849717, 100849780], [100858243, 100858323], [100859443, 100859532]]
ENST00000534060 [[100609173, 100609229], [100641073, 100641169], [100665835, 100665897], [100687445, 100687587], [100730284, 100730356], [100784182, 100784255]] None
ENST00000529406 [[100641071, 100641169], [100665835, 100665897], [100687445, 100687587], [100730284, 100730356], [100784182, 100784257]] None
ENST00000524649 [[100641096, 100641169], [100665835, 100665897], [100730284, 100730638]] None
ENST00000531183 [[100784230, 100784284], [100792224, 100792335], [100803886, 100803991], [100806933, 100807063], [100812514, 100812615], [100814489, 100814599], [100819187, 100819266]] [[100784230, 100784284], [100792224, 100792335], [100803886, 100803991], [100806933, 100807063], [100812514, 100812615], [100814489, 100814599], [100819187, 100819266]]
ENST00000525558 [[100710134, 100710323], [100711290, 100711402], [100730091, 100730153], [100730284, 100730360]] None
ENST00000529535 [[100830580, 100830676], [100831645, 100831720], [100832414, 100832499], [100833139, 100833198], [100836401, 100836507], [100843905, 100844065], [100845189, 100845334], [100846787, 100847168], [100847545, 100847702], [100849717, 100849780], [100856804, 100857083], [100858243, 100858323], [100859443, 100859600]] [[100830580, 100830676], [100831645, 100831720], [100832414, 100832499], [100833139, 100833198], [100836401, 100836507], [100843905, 100844065], [100845189, 100845334], [100846787, 100847168], [100847545, 100847702], [100849717, 100849780], [100856804, 100856808]]
NM_152432 [[100558406, 100558563], [100641073, 100641169], [100665835, 100665897], [100730284, 100730356], [100784182, 100784284], [100792224, 100792335], [100803886, 100803991], [100806933, 100807063], [100812514, 100812615], [100814489, 100814599], [100819187, 100819266], [100820647, 100820687], [100830613, 100830676], [100831645, 100831720], [100832414, 100832499], [100833139, 100833198], [100836401, 100836507], [100843905, 100844065], [100845189, 100845334], [100846787, 100847168], [100847545, 100847702], [100849717, 100849780], [100858243, 100858323], [100859443, 100861656]] [[100558409, 100558563], [100641073, 100641169], [100665835, 100665897], [100730284, 100730356], [100784182, 100784284], [100792224, 100792335], [100803886, 100803991], [100806933, 100807063], [100812514, 100812615], [100814489, 100814599], [100819187, 100819266], [100820647, 100820687], [100830613, 100830676], [100831645, 100831720], [100832414, 100832499], [100833139, 100833198], [100836401, 100836507], [100843905, 100844065], [100845189, 100845334], [100846787, 100847168], [100847545, 100847702], [100849717, 100849780], [100858243, 100858323], [100859443, 100859532]]
Promoter
Chrom Start End Description
chr11 100557931 100557947 CAGE_peak_4_at_ARHGAP42_5end
chr11 100557958 100558008 CAGE_peak_2_at_ARHGAP42_5end
chr11 100558010 100558029 CAGE_peak_1_at_ARHGAP42_5end
chr11 100558047 100558067 CAGE_peak_3_at_ARHGAP42_5end
chr11 100830571 100830580 CAGE_peak_13_at_ARHGAP42_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I100670 100670230 100670379 0.38 [{'connected_gene': 'PPIAP43', 'score': 0.77}, {'connected_gene': 'GC11P100662', 'score': 0.44}, {'connected_gene': 'ARHGAP42', 'score': 0.37}]
chr11 GH11I100677 100677890 100678039 0.2 [{'connected_gene': 'ARHGAP42', 'score': 5.24}, {'connected_gene': 'PPIAP43', 'score': 0.39}, {'connected_gene': 'GC11P100662', 'score': 0.37}]
chr11 GH11I100682 100682330 100682519 0.49 [{'connected_gene': 'ARHGAP42', 'score': 0.44}, {'connected_gene': 'PPIAP43', 'score': 0.37}, {'connected_gene': 'GC11P100662', 'score': 0.37}]
chr11 GH11I100810 100810350 100810499 0.38 [{'connected_gene': 'ARHGAP42', 'score': 9.39}, {'connected_gene': 'RN7SKP115', 'score': 0.31}, {'connected_gene': 'LOC100128386', 'score': 0.13}]
chr11 GH11I100634 100634972 100635799 0.59 [{'connected_gene': 'ARHGAP42', 'score': 15.04}, {'connected_gene': 'LOC100128386', 'score': 10.87}, {'connected_gene': 'RN7SL222P', 'score': 0.44}, {'connected_gene': 'GC11M100607', 'score': 0.44}]
chr11 GH11I100752 100752208 100754189 0.76 [{'connected_gene': 'ARHGAP42', 'score': 30.0}, {'connected_gene': 'LOC100128386', 'score': 11.13}, {'connected_gene': 'RN7SKP115', 'score': 0.17}]
chr11 GH11I100725 100725790 100725939 0.2 [{'connected_gene': 'ARHGAP42', 'score': 18.24}, {'connected_gene': 'LOC100128386', 'score': 10.84}, {'connected_gene': 'ENSG00000170647', 'score': 6.21}, {'connected_gene': 'RN7SKP115', 'score': 0.14}]
chr11 GH11I100774 100774183 100778884 1.12 [{'connected_gene': 'ARHGAP42', 'score': 22.81}, {'connected_gene': 'LOC100128386', 'score': 10.77}, {'connected_gene': 'ENSG00000170647', 'score': 6.18}, {'connected_gene': 'RN7SKP115', 'score': 0.21}]
chr11 GH11I100848 100848302 100850794 0.77 [{'connected_gene': 'RN7SKP115', 'score': 0.44}, {'connected_gene': 'GC11P100865', 'score': 0.37}, {'connected_gene': 'ARHGAP42', 'score': 0.1}]
chr11 GH11I100790 100790533 100791879 0.58 [{'connected_gene': 'RN7SKP115', 'score': 0.25}, {'connected_gene': 'LOC100128386', 'score': 0.15}, {'connected_gene': 'ARHGAP42', 'score': 0.15}]
chr11 GH11I100789 100789601 100789800 1.03 [{'connected_gene': 'RN7SKP115', 'score': 0.25}, {'connected_gene': 'LOC100128386', 'score': 0.15}, {'connected_gene': 'ARHGAP42', 'score': 0.15}]
chr11 GH11I100791 100791933 100792164 0.4 [{'connected_gene': 'RN7SKP115', 'score': 0.25}, {'connected_gene': 'LOC100128386', 'score': 0.15}, {'connected_gene': 'ARHGAP42', 'score': 0.15}]
chr11 GH11I100784 100784948 100786170 0.82 [{'connected_gene': 'RN7SKP115', 'score': 0.23}, {'connected_gene': 'LOC100128386', 'score': 0.15}, {'connected_gene': 'ARHGAP42', 'score': 0.15}]
chr11 GH11I100830 100830265 100833171 0.88 [{'connected_gene': 'RN7SKP115', 'score': 0.44}, {'connected_gene': 'LOC100128386', 'score': 0.11}, {'connected_gene': 'ARHGAP42', 'score': 0.11}]
chr11 GH11I100927 100927730 100927879 0.38 [{'connected_gene': 'LOC105369457', 'score': 0.21}, {'connected_gene': 'ENSG00000170647', 'score': 0.21}, {'connected_gene': 'ARHGAP42', 'score': 0.07}]
chr11 GH11I100918 100918823 100919839 0.65 [{'connected_gene': 'LOC105369457', 'score': 0.23}, {'connected_gene': 'ENSG00000170647', 'score': 0.19}, {'connected_gene': 'ARHGAP42', 'score': 0.07}]
chr11 GH11I100929 100929176 100929704 0.38 [{'connected_gene': 'LOC105369457', 'score': 0.21}, {'connected_gene': 'ENSG00000170647', 'score': 0.21}, {'connected_gene': 'ARHGAP42', 'score': 0.07}]
chr11 GH11I100930 100930001 100930502 0.84 [{'connected_gene': 'LOC105369457', 'score': 0.21}, {'connected_gene': 'ENSG00000170647', 'score': 0.21}, {'connected_gene': 'ARHGAP42', 'score': 0.07}]
chr11 GH11I100889 100889914 100891989 0.43 [{'connected_gene': 'LOC105369457', 'score': 0.34}, {'connected_gene': 'ENSG00000170647', 'score': 0.15}, {'connected_gene': 'ARHGAP42', 'score': 0.08}]
chr11 GH11I100873 100873754 100873897 0.2 [{'connected_gene': 'LOC105369457', 'score': 0.44}, {'connected_gene': 'GC11P100865', 'score': 0.44}, {'connected_gene': 'ENSG00000170647', 'score': 0.13}, {'connected_gene': 'ARHGAP42', 'score': 0.09}]
chr11 GH11I100680 100680874 100681934 1.1 [{'connected_gene': 'LOC100128386', 'score': 8.34}, {'connected_gene': 'ARHGAP42', 'score': 0.44}, {'connected_gene': 'PPIAP43', 'score': 0.39}, {'connected_gene': 'GC11P100662', 'score': 0.37}]
chr11 GH11I100676 100676661 100677808 0.72 [{'connected_gene': 'LOC100128386', 'score': 6.38}, {'connected_gene': 'ENSG00000170647', 'score': 5.81}, {'connected_gene': 'ARHGAP42', 'score': 2.17}, {'connected_gene': 'PPIAP43', 'score': 0.39}, {'connected_gene': 'GC11P100662', 'score': 0.39}]
chr11 GH11I100681 100680182 100680557 0.2 [{'connected_gene': 'LOC100128386', 'score': 8.54}, {'connected_gene': 'ARHGAP42', 'score': 0.44}, {'connected_gene': 'PPIAP43', 'score': 0.39}, {'connected_gene': 'GC11P100662', 'score': 0.37}]
chr11 GH11I100632 100632038 100634341 0.88 [{'connected_gene': 'LOC100128386', 'score': 10.87}, {'connected_gene': 'ARHGAP42', 'score': 10.87}, {'connected_gene': 'ENSG00000170647', 'score': 5.54}, {'connected_gene': 'RN7SL222P', 'score': 0.44}, {'connected_gene': 'GC11M100607', 'score': 0.44}]
chr11 GH11I100630 100630450 100631748 0.6 [{'connected_gene': 'LOC100128386', 'score': 10.86}, {'connected_gene': 'ARHGAP42', 'score': 10.86}, {'connected_gene': 'GC11M100607', 'score': 0.44}, {'connected_gene': 'RN7SL222P', 'score': 0.39}]
chr11 GH11I100827 100827446 100829079 0.83 [{'connected_gene': 'LOC100128386', 'score': 10.56}, {'connected_gene': 'ARHGAP42', 'score': 10.56}, {'connected_gene': 'RN7SKP115', 'score': 0.39}]
chr11 GH11I100760 100760290 100761206 0.49 [{'connected_gene': 'LOC100128386', 'score': 10.45}, {'connected_gene': 'ARHGAP42', 'score': 10.45}, {'connected_gene': 'ENSG00000170647', 'score': 9.82}, {'connected_gene': 'RN7SKP115', 'score': 0.18}]
chr11 GH11I100742 100742570 100742608 0.2 [{'connected_gene': 'LOC100128386', 'score': 10.47}, {'connected_gene': 'ARHGAP42', 'score': 10.47}, {'connected_gene': 'RN7SKP115', 'score': 0.15}]
chr11 GH11I100860 100860152 100862331 0.79 [{'connected_gene': 'LOC100128386', 'score': 10.82}, {'connected_gene': 'ARHGAP42', 'score': 10.82}, {'connected_gene': 'GC11P100865', 'score': 0.77}, {'connected_gene': 'RN7SKP115', 'score': 0.34}]
chr11 GH11I100735 100735796 100736690 0.38 [{'connected_gene': 'LOC100128386', 'score': 11.25}, {'connected_gene': 'ARHGAP42', 'score': 11.25}, {'connected_gene': 'RN7SKP115', 'score': 0.15}]
chr11 GH11I100761 100759950 100760099 0.2 [{'connected_gene': 'LOC100128386', 'score': 10.45}, {'connected_gene': 'ARHGAP42', 'score': 10.45}, {'connected_gene': 'ENSG00000170647', 'score': 4.51}, {'connected_gene': 'RN7SKP115', 'score': 0.18}]
chr11 GH11I100759 100759297 100759598 0.2 [{'connected_gene': 'LOC100128386', 'score': 10.45}, {'connected_gene': 'ARHGAP42', 'score': 10.45}, {'connected_gene': 'RN7SKP115', 'score': 0.18}]
chr11 GH11I100709 100709135 100709645 0.72 [{'connected_gene': 'LOC100128386', 'score': 12.06}, {'connected_gene': 'ARHGAP42', 'score': 12.06}, {'connected_gene': 'GC11P100662', 'score': 0.25}, {'connected_gene': 'RN7SKP115', 'score': 0.12}]
chr11 GH11I100689 100689801 100690200 0.2 [{'connected_gene': 'LOC100128386', 'score': 0.77}, {'connected_gene': 'ARHGAP42', 'score': 0.77}, {'connected_gene': 'GC11P100662', 'score': 0.31}, {'connected_gene': 'RN7SKP115', 'score': 0.11}]
chr11 GH11I100820 100820987 100821649 0.2 [{'connected_gene': 'LOC100128386', 'score': 10.71}, {'connected_gene': 'ARHGAP42', 'score': 10.71}, {'connected_gene': 'ENSG00000255504', 'score': 4.66}, {'connected_gene': 'RN7SKP115', 'score': 0.37}]
chr11 GH11I100737 100737394 100737980 0.2 [{'connected_gene': 'LOC100128386', 'score': 0.25}, {'connected_gene': 'ARHGAP42', 'score': 0.23}, {'connected_gene': 'RN7SKP115', 'score': 0.15}]
chr11 GH11I100823 100823201 100823519 0.4 [{'connected_gene': 'LOC100128386', 'score': 10.71}, {'connected_gene': 'ARHGAP42', 'score': 10.71}, {'connected_gene': 'RN7SKP115', 'score': 0.37}]
chr11 GH11I100748 100748966 100749626 0.2 [{'connected_gene': 'LOC100128386', 'score': 0.21}, {'connected_gene': 'ARHGAP42', 'score': 0.21}, {'connected_gene': 'RN7SKP115', 'score': 0.16}]
chr11 GH11I100692 100692030 100692139 0.31 [{'connected_gene': 'LOC100128386', 'score': 0.77}, {'connected_gene': 'ARHGAP42', 'score': 0.77}, {'connected_gene': 'GC11P100662', 'score': 0.31}, {'connected_gene': 'RN7SKP115', 'score': 0.11}]
chr11 GH11I100925 100925787 100926434 0.85 [{'connected_gene': 'LOC100128386', 'score': 10.4}, {'connected_gene': 'ARHGAP42', 'score': 10.4}, {'connected_gene': 'LOC105369457', 'score': 0.22}, {'connected_gene': 'ENSG00000170647', 'score': 0.2}]
chr11 GH11I100921 100921747 100924568 0.2 [{'connected_gene': 'LOC100128386', 'score': 10.4}, {'connected_gene': 'ARHGAP42', 'score': 10.4}, {'connected_gene': 'LOC105369457', 'score': 0.22}, {'connected_gene': 'ENSG00000170647', 'score': 0.2}]
chr11 GH11I100686 100686167 100689201 1.88 [{'connected_gene': 'LOC100128386', 'score': 559.27}, {'connected_gene': 'ARHGAP42', 'score': 550.77}, {'connected_gene': 'ENSG00000170647', 'score': 11.47}, {'connected_gene': 'GC11P100662', 'score': 0.34}]
chr11 GH11I100561 100561690 100562652 0.63 [{'connected_gene': 'LOC100128386', 'score': 10.56}, {'connected_gene': 'ARHGAP42', 'score': 10.56}, {'connected_gene': 'GC11M100592', 'score': 0.29}, {'connected_gene': 'GC11P100361', 'score': 0.08}]
chr11 GH11I100851 100851075 100852279 0.66 [{'connected_gene': 'LOC100128386', 'score': 5.67}, {'connected_gene': 'ENSG00000170647', 'score': 4.91}, {'connected_gene': 'RN7SKP115', 'score': 0.39}, {'connected_gene': 'GC11P100865', 'score': 0.39}, {'connected_gene': 'ARHGAP42', 'score': 0.1}]
chr11 GH11I100875 100875244 100878806 0.94 [{'connected_gene': 'LOC100128386', 'score': 4.42}, {'connected_gene': 'LOC105369457', 'score': 0.39}, {'connected_gene': 'GC11P100865', 'score': 0.39}, {'connected_gene': 'ENSG00000170647', 'score': 0.14}, {'connected_gene': 'ARHGAP42', 'score': 0.09}]
chr11 GH11I100675 100675277 100675506 0.46 [{'connected_gene': 'ENSG00000170647', 'score': 6.62}, {'connected_gene': 'PPIAP43', 'score': 0.44}, {'connected_gene': 'GC11P100662', 'score': 0.39}, {'connected_gene': 'ARHGAP42', 'score': 0.39}]
chr11 GH11I100862 100862413 100864079 1.09 [{'connected_gene': 'GC11P100865', 'score': 0.77}, {'connected_gene': 'RN7SKP115', 'score': 0.34}, {'connected_gene': 'ARHGAP42', 'score': 0.1}]
chr11 GH11I100792 100792949 100793905 0.38 [{'connected_gene': 'ENSG00000255504', 'score': 5.3}, {'connected_gene': 'RN7SKP115', 'score': 0.25}, {'connected_gene': 'LOC100128386', 'score': 0.14}, {'connected_gene': 'ARHGAP42', 'score': 0.14}]
chr11 GH11I100808 100808828 100809980 1.08 [{'connected_gene': 'ENSG00000255504', 'score': 4.39}, {'connected_gene': 'RN7SKP115', 'score': 0.29}, {'connected_gene': 'LOC100128386', 'score': 0.13}, {'connected_gene': 'ARHGAP42', 'score': 0.13}]
chr11 GH11I100991 100991897 100991956 0.5 [{'connected_gene': 'ENSG00000170647', 'score': 550.77}, {'connected_gene': 'LOC105369457', 'score': 0.13}, {'connected_gene': 'ARHGAP42', 'score': 0.06}]
chr11 GH11I100939 100939690 100939839 0.2 [{'connected_gene': 'ENSG00000170647', 'score': 0.23}, {'connected_gene': 'LOC105369457', 'score': 0.19}, {'connected_gene': 'ARHGAP42', 'score': 0.07}]
chr11 GH11I100941 100941533 100941819 0.2 [{'connected_gene': 'ENSG00000170647', 'score': 0.23}, {'connected_gene': 'LOC105369457', 'score': 0.18}, {'connected_gene': 'ARHGAP42', 'score': 0.07}]
chr11 GH11I100971 100971986 100972242 0.2 [{'connected_gene': 'ENSG00000170647', 'score': 0.37}, {'connected_gene': 'LOC105369457', 'score': 0.14}, {'connected_gene': 'ARHGAP42', 'score': 0.06}]
chr11 GH11I100970 100970950 100971099 0.46 [{'connected_gene': 'ENSG00000170647', 'score': 12.27}, {'connected_gene': 'LOC105369457', 'score': 0.15}, {'connected_gene': 'ARHGAP42', 'score': 0.06}]
chr11 GH11I100684 100684191 100685922 0.69 [{'connected_gene': 'ENSG00000170647', 'score': 18.14}, {'connected_gene': 'LOC100128386', 'score': 8.53}, {'connected_gene': 'ARHGAP42', 'score': 0.77}, {'connected_gene': 'PPIAP43', 'score': 0.37}, {'connected_gene': 'GC11P100662', 'score': 0.34}]
chr11 GH11I100718 100718934 100720530 1 [{'connected_gene': 'ENSG00000170647', 'score': 11.44}, {'connected_gene': 'LOC100128386', 'score': 11.08}, {'connected_gene': 'ARHGAP42', 'score': 11.08}, {'connected_gene': 'RN7SKP115', 'score': 0.13}]
chr11 GH11I100738 100738438 100742414 0.79 [{'connected_gene': 'ENSG00000170647', 'score': 20.13}, {'connected_gene': 'LOC100128386', 'score': 11.24}, {'connected_gene': 'ARHGAP42', 'score': 11.24}, {'connected_gene': 'RN7SKP115', 'score': 0.15}]
chr11 GH11I100726 100725980 100728392 0.59 [{'connected_gene': 'ENSG00000170647', 'score': 11.99}, {'connected_gene': 'LOC100128386', 'score': 10.89}, {'connected_gene': 'ARHGAP42', 'score': 10.89}, {'connected_gene': 'RN7SKP115', 'score': 0.14}]

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