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
ENST00000281405 [[20110020, 20113469], [20113797, 20114038], [20130156, 20130313], [20131029, 20131170], [20132043, 20132208], [20133161, 20133272], [20135231, 20135364], [20135979, 20136126], [20137503, 20137707], [20138025, 20138162], [20141519, 20141600], [20145546, 20145757], [20146221, 20146331], [20147924, 20147978], [20151175, 20151245], [20153594, 20153739], [20160314, 20160375], [20166484, 20166670], [20169240, 20169366], [20173323, 20173469], [20174228, 20174394], [20175290, 20175424], [20178511, 20178640], [20180451, 20180544], [20182223, 20182295], [20188925, 20189043], [20189752, 20189883]] [[20113318, 20113469], [20113797, 20114038], [20130156, 20130313], [20131029, 20131170], [20132043, 20132208], [20133161, 20133272], [20135231, 20135364], [20135979, 20136126], [20137503, 20137707], [20138025, 20138162], [20141519, 20141600], [20145546, 20145757], [20146221, 20146331], [20147924, 20147978], [20151175, 20151245], [20153594, 20153739], [20160314, 20160375], [20166484, 20166670], [20169240, 20169366], [20173323, 20173469], [20174228, 20174394], [20175290, 20175424], [20178511, 20178640], [20180451, 20180544], [20182223, 20182295], [20188925, 20189043], [20189752, 20189776]]
ENST00000345530 [[20110020, 20113469], [20113797, 20114038], [20130156, 20130313], [20131029, 20131170], [20132043, 20132208], [20133161, 20133272], [20135231, 20135364], [20135979, 20136126], [20137503, 20137707], [20138025, 20138162], [20141519, 20141600], [20145546, 20145757], [20146221, 20146331], [20147924, 20147978], [20151175, 20151245], [20153594, 20153739], [20160314, 20160375], [20162055, 20162088], [20166484, 20166670], [20169240, 20169366], [20173323, 20173469], [20174228, 20174394], [20175290, 20175424], [20178511, 20178640], [20180451, 20180544], [20182223, 20182295], [20188925, 20189043], [20189752, 20189892]] [[20113318, 20113469], [20113797, 20114038], [20130156, 20130313], [20131029, 20131170], [20132043, 20132208], [20133161, 20133272], [20135231, 20135364], [20135979, 20136126], [20137503, 20137707], [20138025, 20138162], [20141519, 20141600], [20145546, 20145757], [20146221, 20146331], [20147924, 20147978], [20151175, 20151245], [20153594, 20153739], [20160314, 20160375], [20162055, 20162088], [20166484, 20166670], [20169240, 20169366], [20173323, 20173469], [20174228, 20174394], [20175290, 20175424], [20178511, 20178640], [20180451, 20180544], [20182223, 20182295], [20188925, 20189043], [20189752, 20189776]]
ENST00000414212 [[20113318, 20113469], [20113797, 20114038], [20130156, 20130313], [20131029, 20131170], [20132143, 20132208], [20133161, 20133272], [20135227, 20135364], [20135979, 20136126], [20137503, 20137707], [20138025, 20138162], [20141519, 20141600], [20145546, 20145757], [20146221, 20146331], [20147924, 20147978], [20151175, 20151245], [20153594, 20153739], [20160314, 20160375], [20162055, 20162088], [20166484, 20166670], [20169240, 20169366], [20173323, 20173469], [20174228, 20174394], [20175290, 20175424], [20178511, 20178640], [20180451, 20180544], [20182223, 20182295], [20188925, 20189043], [20189752, 20189809]] [[20133234, 20133272], [20135227, 20135364], [20135979, 20136126], [20137503, 20137707], [20138025, 20138162], [20141519, 20141600], [20145546, 20145757], [20146221, 20146331], [20147924, 20147978], [20151175, 20151245], [20153594, 20153739], [20160314, 20160375], [20162055, 20162088], [20166484, 20166670], [20169240, 20169366], [20173323, 20173469], [20174228, 20174394], [20175290, 20175424], [20178511, 20178640], [20180451, 20180544], [20182223, 20182295], [20188925, 20189043], [20189752, 20189776]]
ENST00000416055 [[20113002, 20113469], [20130156, 20130313], [20131029, 20131170], [20135231, 20135364], [20135979, 20136126], [20137503, 20137707], [20138025, 20138162], [20141519, 20141600], [20145546, 20145757], [20146221, 20146331], [20147924, 20147978], [20151175, 20151245], [20153594, 20153739], [20166484, 20166670], [20169240, 20169366], [20173323, 20173469], [20174228, 20174394], [20175290, 20175397]] [[20113362, 20113469], [20130156, 20130313], [20131029, 20131170], [20135231, 20135364], [20135979, 20136126], [20137503, 20137707], [20138025, 20138162], [20141519, 20141600], [20145546, 20145757], [20146221, 20146331], [20147924, 20147978], [20151175, 20151245], [20153594, 20153722]]
ENST00000445063 [[20113002, 20113469], [20130156, 20130313], [20131029, 20131170], [20135231, 20135364], [20135979, 20136126], [20137503, 20137707], [20138025, 20138162], [20141519, 20141600], [20145546, 20145757], [20146221, 20146331], [20147924, 20147978], [20151175, 20151245], [20153594, 20153739], [20166484, 20166670], [20169240, 20169366], [20173323, 20173469], [20174228, 20174394], [20175290, 20175397]] [[20153718, 20153739], [20166484, 20166670], [20169240, 20169366], [20173323, 20173469], [20174228, 20174394], [20175290, 20175397]]
ENST00000453014 [[20134792, 20135364], [20135979, 20136126], [20137503, 20137707], [20138025, 20138162], [20141519, 20141600], [20145546, 20145757], [20146221, 20146331], [20147924, 20147978], [20151175, 20151245], [20153594, 20153632]] [[20135195, 20135364], [20135979, 20136126], [20137503, 20137707], [20138025, 20138162], [20141519, 20141600], [20145546, 20145757], [20146221, 20146331], [20147924, 20147978], [20151175, 20151245], [20153594, 20153632]]
ENST00000494964 [[20147932, 20147978], [20151175, 20151682]] None
NM_001006657 [[20110023, 20113469], [20113797, 20114038], [20130156, 20130313], [20131029, 20131170], [20132043, 20132208], [20133161, 20133272], [20135231, 20135364], [20135979, 20136126], [20137503, 20137707], [20138025, 20138162], [20141519, 20141600], [20145546, 20145757], [20146221, 20146331], [20147924, 20147978], [20151175, 20151245], [20153594, 20153739], [20160314, 20160375], [20162055, 20162088], [20166484, 20166670], [20169240, 20169366], [20173323, 20173469], [20174228, 20174394], [20175290, 20175424], [20178511, 20178640], [20180451, 20180544], [20182223, 20182295], [20188925, 20189043], [20189752, 20189884]] [[20113318, 20113469], [20113797, 20114038], [20130156, 20130313], [20131029, 20131170], [20132043, 20132208], [20133161, 20133272], [20135231, 20135364], [20135979, 20136126], [20137503, 20137707], [20138025, 20138162], [20141519, 20141600], [20145546, 20145757], [20146221, 20146331], [20147924, 20147978], [20151175, 20151245], [20153594, 20153739], [20160314, 20160375], [20162055, 20162088], [20166484, 20166670], [20169240, 20169366], [20173323, 20173469], [20174228, 20174394], [20175290, 20175424], [20178511, 20178640], [20180451, 20180544], [20182223, 20182295], [20188925, 20189043], [20189752, 20189776]]
NM_020779 [[20110023, 20113469], [20113797, 20114038], [20130156, 20130313], [20131029, 20131170], [20132043, 20132208], [20133161, 20133272], [20135231, 20135364], [20135979, 20136126], [20137503, 20137707], [20138025, 20138162], [20141519, 20141600], [20145546, 20145757], [20146221, 20146331], [20147924, 20147978], [20151175, 20151245], [20153594, 20153739], [20160314, 20160375], [20166484, 20166670], [20169240, 20169366], [20173323, 20173469], [20174228, 20174394], [20175290, 20175424], [20178511, 20178640], [20180451, 20180544], [20182223, 20182295], [20188925, 20189043], [20189752, 20189884]] [[20113318, 20113469], [20113797, 20114038], [20130156, 20130313], [20131029, 20131170], [20132043, 20132208], [20133161, 20133272], [20135231, 20135364], [20135979, 20136126], [20137503, 20137707], [20138025, 20138162], [20141519, 20141600], [20145546, 20145757], [20146221, 20146331], [20147924, 20147978], [20151175, 20151245], [20153594, 20153739], [20160314, 20160375], [20166484, 20166670], [20169240, 20169366], [20173323, 20173469], [20174228, 20174394], [20175290, 20175424], [20178511, 20178640], [20180451, 20180544], [20182223, 20182295], [20188925, 20189043], [20189752, 20189776]]
Promoter
Chrom Start End Description
chr2 20189819 20189923 CAGE_peak_1_at_WDR35_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I020144 20144318 20147091 1.03 [{'connected_gene': 'WDR35', 'score': 12.59}, {'connected_gene': 'TTC32', 'score': 10.33}, {'connected_gene': 'ENSG00000234378', 'score': 5.07}, {'connected_gene': 'LAPTM4A', 'score': 4.73}, {'connected_gene': 'GC02P020141', 'score': 0.77}, {'connected_gene': 'GC02M020149', 'score': 0.44}]
chr2 GH02I019898 19898201 19899400 0.69 [{'connected_gene': 'WDR35', 'score': 6.51}, {'connected_gene': 'TTC32', 'score': 0.77}, {'connected_gene': 'LINC00954', 'score': 0.31}]
chr2 GH02I020004 20004141 20006851 0.78 [{'connected_gene': 'WDR35', 'score': 8.38}, {'connected_gene': 'TTC32', 'score': 7.9}, {'connected_gene': 'LOC105373463', 'score': 4.6}, {'connected_gene': 'MATN3', 'score': 0.44}, {'connected_gene': 'LOC101928222', 'score': 0.37}]
chr2 GH02I019988 19988944 19991123 2.02 [{'connected_gene': 'WDR35', 'score': 558.09}, {'connected_gene': 'LOC101928222', 'score': 550.77}, {'connected_gene': 'TTC32', 'score': 34.08}, {'connected_gene': 'MATN3', 'score': 12.53}, {'connected_gene': 'RNFT1P1', 'score': 0.77}]
chr2 GH02I019976 19976375 19976708 0.28 [{'connected_gene': 'WDR35', 'score': 1.57}, {'connected_gene': 'RNFT1P1', 'score': 0.44}, {'connected_gene': 'GC02P019954', 'score': 0.34}]
chr2 GH02I020123 20123756 20126676 0.49 [{'connected_gene': 'MATN3', 'score': 18.52}, {'connected_gene': 'SDC1', 'score': 11.23}, {'connected_gene': 'RNU6-961P', 'score': 10.99}, {'connected_gene': 'ENSG00000234378', 'score': 7.02}, {'connected_gene': 'TTC32', 'score': 5.21}, {'connected_gene': 'WDR35', 'score': 5.1}, {'connected_gene': 'GC02P020141', 'score': 0.37}, {'connected_gene': 'LOC105373463', 'score': 0.19}]
chr2 GH02I019910 19910921 19912729 0.97 [{'connected_gene': 'MATN3', 'score': 10.79}, {'connected_gene': 'ENSG00000271991', 'score': 0.44}, {'connected_gene': 'GC02P019954', 'score': 0.26}, {'connected_gene': 'WDR35', 'score': 0.18}]
chr2 GH02I020166 20165646 20167618 1.3 [{'connected_gene': 'PUM2', 'score': 75.73}, {'connected_gene': 'TTC32', 'score': 41.11}, {'connected_gene': 'MATN3', 'score': 15.42}, {'connected_gene': 'WDR35', 'score': 11.75}, {'connected_gene': 'LINC00954', 'score': 11.67}, {'connected_gene': 'LINC01376', 'score': 11.39}, {'connected_gene': 'SDC1', 'score': 11.18}, {'connected_gene': 'LAPTM4A', 'score': 10.23}, {'connected_gene': 'GC02M020159', 'score': 0.77}, {'connected_gene': 'GC02P020178', 'score': 0.44}]
chr2 GH02I020566 20566866 20581348 2.17 [{'connected_gene': 'PUM2', 'score': 22.58}, {'connected_gene': 'TTC32', 'score': 22.27}, {'connected_gene': 'RHOB', 'score': 20.95}, {'connected_gene': 'GDF7', 'score': 13.21}, {'connected_gene': 'ENSG00000228950', 'score': 11.1}, {'connected_gene': 'WDR35', 'score': 10.95}, {'connected_gene': 'RNU6-961P', 'score': 9.52}, {'connected_gene': 'HS1BP3-IT1', 'score': 5.9}, {'connected_gene': 'HS1BP3', 'score': 1.89}, {'connected_gene': 'ENSG00000269976', 'score': 0.39}, {'connected_gene': 'GC02P020545', 'score': 0.31}]
chr2 GH02I020065 20065023 20066947 1.34 [{'connected_gene': 'TTC32', 'score': 62.78}, {'connected_gene': 'WDR35', 'score': 35.15}, {'connected_gene': 'LINC01376', 'score': 31.44}, {'connected_gene': 'PUM2', 'score': 21.77}, {'connected_gene': 'MATN3', 'score': 14.12}, {'connected_gene': 'ENSG00000234378', 'score': 11.43}, {'connected_gene': 'LOC105373463', 'score': 4.67}, {'connected_gene': 'GC02M020086', 'score': 0.31}]
chr2 GH02I019931 19931811 19935134 0.92 [{'connected_gene': 'TTC32', 'score': 37.17}, {'connected_gene': 'MATN3', 'score': 18.09}, {'connected_gene': 'WDR35', 'score': 7.66}, {'connected_gene': 'GC02P019954', 'score': 0.34}, {'connected_gene': 'ENSG00000271991', 'score': 0.29}]
chr2 GH02I019899 19899796 19903426 2.31 [{'connected_gene': 'TTC32', 'score': 594.31}, {'connected_gene': 'ENSG00000271991', 'score': 550.77}, {'connected_gene': 'MATN3', 'score': 14.97}, {'connected_gene': 'LINC00954', 'score': 14.13}, {'connected_gene': 'PUM2', 'score': 9.69}, {'connected_gene': 'WDR35', 'score': 7.39}]
chr2 GH02I019971 19971209 19972631 0.53 [{'connected_gene': 'TTC32', 'score': 43.17}, {'connected_gene': 'MATN3', 'score': 11.14}, {'connected_gene': 'RNU7-113P', 'score': 10.19}, {'connected_gene': 'RNFT1P1', 'score': 0.39}, {'connected_gene': 'WDR35', 'score': 0.37}, {'connected_gene': 'GC02P019954', 'score': 0.37}]
chr2 GH02I020581 20581676 20586898 1.4 [{'connected_gene': 'TTC32', 'score': 11.98}, {'connected_gene': 'PUM2', 'score': 11.17}, {'connected_gene': 'WDR35', 'score': 10.95}, {'connected_gene': 'ENSG00000227047', 'score': 10.8}, {'connected_gene': 'GDF7', 'score': 10.6}, {'connected_gene': 'ENSG00000269976', 'score': 0.77}, {'connected_gene': 'GC02P020545', 'score': 0.28}, {'connected_gene': 'HS1BP3', 'score': 0.2}]
chr2 GH02I020067 20067336 20069000 1.1 [{'connected_gene': 'TTC32', 'score': 16.01}, {'connected_gene': 'LOC105373463', 'score': 13.1}, {'connected_gene': 'WDR35', 'score': 12.67}, {'connected_gene': 'ENSG00000234378', 'score': 11.49}, {'connected_gene': 'GC02M020086', 'score': 0.31}]
chr2 GH02I020164 20164460 20164729 0.96 [{'connected_gene': 'GC02M020159', 'score': 550.77}, {'connected_gene': 'LAPTM4A', 'score': 14.13}, {'connected_gene': 'TTC32', 'score': 13.01}, {'connected_gene': 'SDC1', 'score': 11.16}, {'connected_gene': 'WDR35', 'score': 10.42}, {'connected_gene': 'PUM2', 'score': 10.31}, {'connected_gene': 'GC02P020178', 'score': 0.39}]
chr2 GH02I020090 20090571 20095452 1.37 [{'connected_gene': 'GC02M020086', 'score': 550.77}, {'connected_gene': 'MATN3', 'score': 25.89}, {'connected_gene': 'ENSG00000234378', 'score': 15.25}, {'connected_gene': 'LOC101928222', 'score': 12.13}, {'connected_gene': 'WDR35', 'score': 12.13}, {'connected_gene': 'RNU6-961P', 'score': 10.82}, {'connected_gene': 'RNU7-113P', 'score': 10.82}, {'connected_gene': 'LOC105373463', 'score': 7.13}]

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