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
ENST00000311128 [[57611183, 57614072], [57614537, 57614612], [57616147, 57616250], [57616441, 57616551], [57616651, 57616705], [57618991, 57619081], [57620284, 57620349], [57620430, 57620496], [57627379, 57627474], [57631387, 57631483], [57632042, 57632165], [57643406, 57643462], [57644844, 57644907], [57646486, 57646566], [57647172, 57647278], [57649362, 57649443], [57651849, 57651962], [57657982, 57658025], [57658126, 57658165], [57678508, 57678816]] [[57613940, 57614072], [57614537, 57614612], [57616147, 57616250], [57616441, 57616551], [57616651, 57616705], [57618991, 57619081], [57620284, 57620349], [57620430, 57620496], [57627379, 57627474], [57631387, 57631483], [57632042, 57632165], [57643406, 57643462], [57644844, 57644907], [57646486, 57646566], [57647172, 57647278], [57649362, 57649443], [57651849, 57651962], [57657982, 57658025], [57658126, 57658165], [57678508, 57678745]]
ENST00000464875 [[57651687, 57651962], [57657982, 57658025], [57658126, 57658165], [57678508, 57678571]] None
ENST00000471531 [[57616075, 57616250], [57616441, 57616551], [57616651, 57616705], [57618991, 57619058]] [[57616105, 57616250], [57616441, 57616551], [57616651, 57616705], [57618991, 57619058]]
ENST00000480710 [[57616465, 57616551], [57616651, 57616911]] None
ENST00000477344 [[57620430, 57620496], [57627379, 57627474], [57631387, 57631483], [57632042, 57632165], [57643406, 57643462], [57646486, 57646553]] [[57620430, 57620496], [57627379, 57627474], [57631387, 57631483], [57632042, 57632165], [57643406, 57643462], [57646486, 57646553]]
ENST00000487662 [[57643377, 57643462], [57644844, 57644907], [57646486, 57646566], [57647172, 57647278], [57649362, 57649443], [57651849, 57651921]] None
NM_152678 [[57611180, 57614072], [57614537, 57614612], [57616147, 57616250], [57616441, 57616551], [57616651, 57616705], [57618991, 57619081], [57620284, 57620349], [57620430, 57620496], [57627379, 57627474], [57631387, 57631483], [57632042, 57632165], [57643406, 57643462], [57644844, 57644907], [57646486, 57646566], [57647172, 57647278], [57649362, 57649443], [57651849, 57651962], [57657982, 57658025], [57658126, 57658165], [57678508, 57678816]] [[57613940, 57614072], [57614537, 57614612], [57616147, 57616250], [57616441, 57616551], [57616651, 57616705], [57618991, 57619081], [57620284, 57620349], [57620430, 57620496], [57627379, 57627474], [57631387, 57631483], [57632042, 57632165], [57643406, 57643462], [57644844, 57644907], [57646486, 57646566], [57647172, 57647278], [57649362, 57649443], [57651849, 57651962], [57657982, 57658025], [57658126, 57658165], [57678508, 57678745]]
Promoter
Chrom Start End Description
chr3 57678703 57678712 CAGE_peak_2_at_FAM116A_5end
chr3 57678772 57678838 CAGE_peak_1_at_FAM116A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I057695 57695986 57697874 0.38 [{'connected_gene': 'ACOX2', 'score': 4.82}, {'connected_gene': 'DENND6A-DT', 'score': 0.77}, {'connected_gene': 'DENND6A', 'score': 0.77}, {'connected_gene': 'GC03P057753', 'score': 0.22}]
chr3 GH03I057793 57793601 57794200 1.29 [{'connected_gene': 'SLMAP', 'score': 6.48}, {'connected_gene': 'IL17RD', 'score': 4.49}, {'connected_gene': 'DENND6A', 'score': 3.1}, {'connected_gene': 'PDHA1P1', 'score': 0.44}]
chr3 GH03I057653 57653483 57653845 0.25 [{'connected_gene': 'SLMAP', 'score': 20.5}, {'connected_gene': 'DENND6A', 'score': 16.31}, {'connected_gene': 'DENND6A-AS1', 'score': 11.75}, {'connected_gene': 'DENND6A-DT', 'score': 11.39}, {'connected_gene': 'PDE12', 'score': 10.5}, {'connected_gene': 'ARF4', 'score': 8.99}]
chr3 GH03I057706 57706117 57707114 0.69 [{'connected_gene': 'SLMAP', 'score': 15.89}, {'connected_gene': 'DNAH12', 'score': 8.83}, {'connected_gene': 'ASB14', 'score': 8.78}, {'connected_gene': 'ACOX2', 'score': 4.62}, {'connected_gene': 'DENND6A', 'score': 0.39}, {'connected_gene': 'GC03P057753', 'score': 0.25}]
chr3 GH03I057709 57709451 57709942 0.2 [{'connected_gene': 'SLMAP', 'score': 11.35}, {'connected_gene': 'DNAH12', 'score': 8.84}, {'connected_gene': 'ASB14', 'score': 8.78}, {'connected_gene': 'ARF4', 'score': 5.68}, {'connected_gene': 'DENND6A', 'score': 0.37}, {'connected_gene': 'GC03P057753', 'score': 0.26}]
chr3 GH03I057754 57754899 57759201 2.27 [{'connected_gene': 'SLMAP', 'score': 550.77}, {'connected_gene': 'DENND6A-DT', 'score': 11.46}, {'connected_gene': 'DENND6A', 'score': 11.46}, {'connected_gene': 'IL17RD', 'score': 5.76}, {'connected_gene': 'PDE12', 'score': 5.06}, {'connected_gene': 'DNAH12', 'score': 4.97}, {'connected_gene': 'ARF4', 'score': 4.96}, {'connected_gene': 'ENSG00000272202', 'score': 4.09}, {'connected_gene': 'GC03P057753', 'score': 0.77}, {'connected_gene': 'PDHA1P1', 'score': 0.26}]
chr3 GH03I057670 57670461 57672605 0.89 [{'connected_gene': 'SLMAP', 'score': 15.83}, {'connected_gene': 'DENND6A-DT', 'score': 12.01}, {'connected_gene': 'DENND6A', 'score': 12.01}, {'connected_gene': 'ARF4', 'score': 10.69}, {'connected_gene': 'RPP14', 'score': 4.38}, {'connected_gene': 'ENSG00000272202', 'score': 4.06}, {'connected_gene': 'DENND6A-AS1', 'score': 0.26}]
chr3 GH03I057896 57896179 57896238 0.5 [{'connected_gene': 'SLMAP', 'score': 550.11}, {'connected_gene': 'DENND6A-DT', 'score': 10.14}, {'connected_gene': 'DENND6A', 'score': 10.14}, {'connected_gene': 'FLNB', 'score': 9.75}, {'connected_gene': 'APPL1', 'score': 9.71}, {'connected_gene': 'HESX1', 'score': 9.71}, {'connected_gene': 'FLNB-AS1', 'score': 9.68}, {'connected_gene': 'GC03P057900', 'score': 0.77}, {'connected_gene': 'GC03M057850', 'score': 0.25}]
chr3 GH03I057832 57832994 57833283 0.38 [{'connected_gene': 'SLMAP', 'score': 11.07}, {'connected_gene': 'DENND6A-DT', 'score': 10.34}, {'connected_gene': 'DENND6A', 'score': 10.34}, {'connected_gene': 'GC03M057850', 'score': 0.37}, {'connected_gene': 'PDHA1P1', 'score': 0.29}]
chr3 GH03I058332 58332175 58336743 2.28 [{'connected_gene': 'PXK', 'score': 560.03}, {'connected_gene': 'DENND6A', 'score': 80.28}, {'connected_gene': 'FLNB-AS1', 'score': 53.9}, {'connected_gene': 'FLNB', 'score': 51.17}, {'connected_gene': 'KCTD6', 'score': 33.91}, {'connected_gene': 'RPP14', 'score': 24.15}, {'connected_gene': 'PDE12', 'score': 22.54}, {'connected_gene': 'HTD2', 'score': 11.11}, {'connected_gene': 'FAM107A', 'score': 10.25}, {'connected_gene': 'ABHD6', 'score': 9.9}, {'connected_gene': 'ACOX2', 'score': 9.61}, {'connected_gene': 'ENSG00000272182', 'score': 7.51}, {'connected_gene': 'ENSG00000273493', 'score': 5.34}, {'connected_gene': 'LOC105377106', 'score': 0.37}]
chr3 GH03I057169 57169801 57170601 1.36 [{'connected_gene': 'IL17RD', 'score': 550.77}, {'connected_gene': 'APPL1', 'score': 16.79}, {'connected_gene': 'HESX1', 'score': 11.04}, {'connected_gene': 'PDE12', 'score': 10.36}, {'connected_gene': 'ASB14', 'score': 9.91}, {'connected_gene': 'DNAH12', 'score': 9.84}, {'connected_gene': 'DENND6A-DT', 'score': 9.47}, {'connected_gene': 'DENND6A', 'score': 9.47}, {'connected_gene': 'SLMAP', 'score': 4.1}, {'connected_gene': 'LOC105377101', 'score': 0.37}]
chr3 GH03I057826 57826336 57826483 0.65 [{'connected_gene': 'ARF4', 'score': 11.31}, {'connected_gene': 'SLMAP', 'score': 11.0}, {'connected_gene': 'DENND6A-DT', 'score': 10.89}, {'connected_gene': 'DENND6A', 'score': 10.89}, {'connected_gene': 'PDHA1P1', 'score': 0.34}, {'connected_gene': 'GC03M057850', 'score': 0.34}]
chr3 GH03I057582 57582578 57584166 0.65 [{'connected_gene': 'ARF4', 'score': 14.62}, {'connected_gene': 'PDE12', 'score': 11.68}, {'connected_gene': 'DENND6A-AS1', 'score': 10.49}, {'connected_gene': 'DENND6A-DT', 'score': 10.11}, {'connected_gene': 'DENND6A', 'score': 10.11}, {'connected_gene': 'GC03P057599', 'score': 0.39}]
chr3 GH03I057594 57594549 57600593 2.3 [{'connected_gene': 'ARF4', 'score': 565.34}, {'connected_gene': 'GC03P057599', 'score': 550.77}, {'connected_gene': 'ARF4-AS1', 'score': 550.77}, {'connected_gene': 'DENND6A', 'score': 23.78}, {'connected_gene': 'FAM208A', 'score': 20.42}, {'connected_gene': 'DENND6A-AS1', 'score': 11.53}, {'connected_gene': 'PDE12', 'score': 11.29}, {'connected_gene': 'DENND6A-DT', 'score': 10.73}, {'connected_gene': 'APPL1', 'score': 9.85}, {'connected_gene': 'HESX1', 'score': 9.85}, {'connected_gene': 'FLNB', 'score': 9.84}, {'connected_gene': 'DNAH12', 'score': 5.55}, {'connected_gene': 'ABHD6', 'score': 5.46}, {'connected_gene': 'IL17RD', 'score': 4.7}]
chr3 GH03I056980 56980394 56982262 1.09 [{'connected_gene': 'SPATA12', 'score': 10.79}, {'connected_gene': 'ARHGEF3', 'score': 10.76}, {'connected_gene': 'DENND6A', 'score': 4.57}, {'connected_gene': 'ARHGEF3-AS1', 'score': 0.26}]
chr3 GH03I056921 56921305 56927423 1.38 [{'connected_gene': 'CCDC66', 'score': 19.54}, {'connected_gene': 'FAM208A', 'score': 16.8}, {'connected_gene': 'DENND6A', 'score': 15.75}, {'connected_gene': 'APPL1', 'score': 12.27}, {'connected_gene': 'ARHGEF3', 'score': 12.2}, {'connected_gene': 'PDE12', 'score': 10.88}, {'connected_gene': 'GC03M056906', 'score': 0.37}, {'connected_gene': 'ARHGEF3-AS1', 'score': 0.37}]
chr3 GH03I056976 56976253 56978134 0.99 [{'connected_gene': 'CCDC66', 'score': 19.56}, {'connected_gene': 'FAM208A', 'score': 19.54}, {'connected_gene': 'DENND6A', 'score': 10.16}, {'connected_gene': 'ARHGEF3-AS1', 'score': 0.28}, {'connected_gene': 'SPATA12', 'score': 0.18}, {'connected_gene': 'ARHGEF3', 'score': 0.15}]
chr3 GH03I057925 57925245 57927907 0.2 [{'connected_gene': 'FLNB', 'score': 10.4}, {'connected_gene': 'FLNB-AS1', 'score': 10.29}, {'connected_gene': 'DENND6A-DT', 'score': 10.08}, {'connected_gene': 'DENND6A', 'score': 10.08}, {'connected_gene': 'DNASE1L3', 'score': 9.63}, {'connected_gene': 'SLMAP', 'score': 5.87}, {'connected_gene': 'LOC105377103', 'score': 0.44}, {'connected_gene': 'PPIAP16', 'score': 0.37}]
chr3 GH03I057652 57652104 57652353 0.23 [{'connected_gene': 'DENND6A', 'score': 15.17}, {'connected_gene': 'SLMAP', 'score': 14.64}, {'connected_gene': 'DENND6A-DT', 'score': 11.77}, {'connected_gene': 'PDE12', 'score': 1.54}, {'connected_gene': 'DENND6A-AS1', 'score': 0.34}]
chr3 GH03I057576 57576376 57576528 0.62 [{'connected_gene': 'DENND6A', 'score': 19.77}, {'connected_gene': 'PDE12', 'score': 16.85}, {'connected_gene': 'APPL1', 'score': 11.67}, {'connected_gene': 'DENND6A-DT', 'score': 10.38}, {'connected_gene': 'HESX1', 'score': 9.6}, {'connected_gene': 'SLMAP', 'score': 4.09}, {'connected_gene': 'GC03P057599', 'score': 0.34}, {'connected_gene': 'ARF4', 'score': 0.34}]
chr3 GH03I057569 57569827 57569862 0.36 [{'connected_gene': 'DENND6A', 'score': 3.59}, {'connected_gene': 'PDE12', 'score': 1.93}, {'connected_gene': 'GC03P057599', 'score': 0.31}]
chr3 GH03I057729 57729229 57730000 0.43 [{'connected_gene': 'DENND6A', 'score': 5.54}, {'connected_gene': 'DNAH12', 'score': 5.01}, {'connected_gene': 'GC03P057753', 'score': 0.34}]
chr3 GH03I058073 58073014 58075368 1.08 [{'connected_gene': 'DENND6A', 'score': 14.28}, {'connected_gene': 'FLNB-AS1', 'score': 10.33}, {'connected_gene': 'PXK', 'score': 4.32}, {'connected_gene': 'GC03P058010', 'score': 0.21}, {'connected_gene': 'FLNB', 'score': 0.2}]
chr3 GH03I057720 57720947 57721973 0.31 [{'connected_gene': 'DENND6A', 'score': 17.38}, {'connected_gene': 'DENND6A-DT', 'score': 12.54}, {'connected_gene': 'SLMAP', 'score': 12.51}, {'connected_gene': 'DENND6A-AS1', 'score': 10.42}, {'connected_gene': 'GC03P057753', 'score': 0.29}]
chr3 GH03I057579 57579251 57579633 0.26 [{'connected_gene': 'PDE12', 'score': 13.47}, {'connected_gene': 'SLMAP', 'score': 4.64}, {'connected_gene': 'DENND6A', 'score': 2.73}, {'connected_gene': 'GC03P057599', 'score': 0.37}, {'connected_gene': 'ARF4', 'score': 0.37}]
chr3 GH03I057555 57555074 57558445 2.11 [{'connected_gene': 'PDE12', 'score': 561.62}, {'connected_gene': 'GC03M057554', 'score': 550.77}, {'connected_gene': 'DENND6A', 'score': 25.93}, {'connected_gene': 'APPL1', 'score': 22.1}, {'connected_gene': 'CCDC66', 'score': 16.81}, {'connected_gene': 'FAM208A', 'score': 16.28}, {'connected_gene': 'FLNB-AS1', 'score': 14.35}, {'connected_gene': 'FLNB', 'score': 13.57}, {'connected_gene': 'DENND6A-DT', 'score': 10.21}, {'connected_gene': 'HESX1', 'score': 9.88}, {'connected_gene': 'ARF4', 'score': 9.16}, {'connected_gene': 'ENSG00000272202', 'score': 4.59}, {'connected_gene': 'GC03P057599', 'score': 0.26}]
chr3 GH03I057593 57593601 57594000 0.31 [{'connected_gene': 'PDE12', 'score': 11.31}, {'connected_gene': 'DENND6A-AS1', 'score': 11.13}, {'connected_gene': 'DENND6A-DT', 'score': 10.24}, {'connected_gene': 'DENND6A', 'score': 10.24}, {'connected_gene': 'APPL1', 'score': 9.29}, {'connected_gene': 'HESX1', 'score': 9.29}, {'connected_gene': 'ARF4', 'score': 7.22}, {'connected_gene': 'GC03P057599', 'score': 0.77}]
chr3 GH03I057450 57450080 57452599 0.95 [{'connected_gene': 'DNAH12', 'score': 16.5}, {'connected_gene': 'DENND6A', 'score': 14.97}, {'connected_gene': 'RNU6-1181P', 'score': 11.19}, {'connected_gene': 'ASB14', 'score': 10.5}, {'connected_gene': 'DENND6A-DT', 'score': 10.2}, {'connected_gene': 'ARF4', 'score': 4.47}, {'connected_gene': 'SLMAP', 'score': 4.41}, {'connected_gene': 'GC03P057493', 'score': 0.26}]
chr3 GH03I058462 58462835 58464443 1.11 [{'connected_gene': 'KCTD6', 'score': 24.33}, {'connected_gene': 'PDHB', 'score': 19.77}, {'connected_gene': 'RPP14', 'score': 17.81}, {'connected_gene': 'PXK', 'score': 14.95}, {'connected_gene': 'DENND6A', 'score': 14.26}, {'connected_gene': 'ACOX2', 'score': 11.4}, {'connected_gene': 'HTD2', 'score': 11.12}, {'connected_gene': 'ENSG00000243384', 'score': 10.55}, {'connected_gene': 'FAM107A', 'score': 10.5}, {'connected_gene': 'FLNB-AS1', 'score': 10.23}, {'connected_gene': 'ENSG00000272360', 'score': 0.31}]
chr3 GH03I058305 58305654 58308963 2.29 [{'connected_gene': 'RPP14', 'score': 591.47}, {'connected_gene': 'HTD2', 'score': 550.77}, {'connected_gene': 'DENND6A', 'score': 13.74}, {'connected_gene': 'ABHD6', 'score': 9.95}, {'connected_gene': 'PDHB', 'score': 5.59}, {'connected_gene': 'ENSG00000273493', 'score': 5.48}, {'connected_gene': 'PXK', 'score': 4.65}, {'connected_gene': 'PIR62243', 'score': 0.39}]
chr3 GH03I057601 57601898 57602600 0.2 [{'connected_gene': 'DENND6A-AS1', 'score': 11.63}, {'connected_gene': 'DENND6A-DT', 'score': 11.0}, {'connected_gene': 'DENND6A', 'score': 11.0}, {'connected_gene': 'SLMAP', 'score': 4.65}, {'connected_gene': 'ARF4', 'score': 0.77}, {'connected_gene': 'GC03P057620', 'score': 0.37}, {'connected_gene': 'PDE12', 'score': 0.25}]
chr3 GH03I058353 58353401 58357710 1.3 [{'connected_gene': 'LOC105377106', 'score': 550.77}, {'connected_gene': 'RPP14', 'score': 22.43}, {'connected_gene': 'FLNB-AS1', 'score': 13.89}, {'connected_gene': 'DENND6A', 'score': 10.07}, {'connected_gene': 'ABHD6', 'score': 8.04}, {'connected_gene': 'PXK', 'score': 7.17}, {'connected_gene': 'DNASE1L3', 'score': 1.41}, {'connected_gene': 'ENSG00000275607', 'score': 0.34}]
chr3 GH03I058046 58046710 58055698 1.75 [{'connected_gene': 'FLNB-AS1', 'score': 22.35}, {'connected_gene': 'FLNB', 'score': 20.87}, {'connected_gene': 'DENND6A', 'score': 20.54}, {'connected_gene': 'PXK', 'score': 5.05}, {'connected_gene': 'GC03P058010', 'score': 0.26}]
chr3 GH03I057690 57690654 57694437 2.04 [{'connected_gene': 'DENND6A-DT', 'score': 550.77}, {'connected_gene': 'DENND6A', 'score': 550.77}, {'connected_gene': 'ARF4', 'score': 14.72}, {'connected_gene': 'IL17RD', 'score': 4.97}, {'connected_gene': 'ACOX2', 'score': 4.86}, {'connected_gene': 'SLMAP', 'score': 4.86}, {'connected_gene': 'DENND6A-AS1', 'score': 0.21}]
chr3 GH03I057659 57659974 57660123 0.2 [{'connected_gene': 'DENND6A-DT', 'score': 11.52}, {'connected_gene': 'DENND6A', 'score': 11.52}, {'connected_gene': 'DENND6A-AS1', 'score': 11.49}, {'connected_gene': 'SLMAP', 'score': 10.99}]
chr3 GH03I057810 57810231 57811345 0.64 [{'connected_gene': 'DENND6A-DT', 'score': 10.81}, {'connected_gene': 'DENND6A', 'score': 10.81}, {'connected_gene': 'PDHA1P1', 'score': 0.44}, {'connected_gene': 'GC03M057850', 'score': 0.28}, {'connected_gene': 'SLMAP', 'score': 0.22}]
chr3 GH03I057814 57814463 57815533 0.31 [{'connected_gene': 'DENND6A-DT', 'score': 10.66}, {'connected_gene': 'DENND6A', 'score': 10.66}, {'connected_gene': 'PDHA1P1', 'score': 0.39}, {'connected_gene': 'GC03M057850', 'score': 0.28}, {'connected_gene': 'SLMAP', 'score': 0.22}]
chr3 GH03I057816 57816801 57817000 0.49 [{'connected_gene': 'DENND6A-DT', 'score': 10.66}, {'connected_gene': 'DENND6A', 'score': 10.66}, {'connected_gene': 'PDHA1P1', 'score': 0.37}, {'connected_gene': 'GC03M057850', 'score': 0.29}, {'connected_gene': 'SLMAP', 'score': 0.21}]
chr3 GH03I057093 57093093 57096379 0.63 [{'connected_gene': 'PIR55494', 'score': 550.77}, {'connected_gene': 'SPATA12', 'score': 11.43}, {'connected_gene': 'APPL1', 'score': 10.02}, {'connected_gene': 'HESX1', 'score': 10.02}, {'connected_gene': 'ASB14', 'score': 9.93}, {'connected_gene': 'DNAH12', 'score': 9.9}, {'connected_gene': 'DENND6A-DT', 'score': 9.35}, {'connected_gene': 'DENND6A', 'score': 9.35}, {'connected_gene': 'GC03M057078', 'score': 0.39}, {'connected_gene': 'IL17RD', 'score': 0.18}]
chr3 GH03I057752 57751214 57751363 0.4 [{'connected_gene': 'GC03P057753', 'score': 550.77}, {'connected_gene': 'DENND6A', 'score': 0.22}]
chr3 GH03I057751 57751378 57754107 0.72 [{'connected_gene': 'GC03P057753', 'score': 550.77}, {'connected_gene': 'DENND6A', 'score': 0.22}]

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