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
ENST00000402696 [[133464799, 133465327], [133467255, 133467428], [133472438, 133472547], [133473338, 133473515], [133474206, 133474339], [133475125, 133475181], [133475674, 133475853], [133476612, 133476790], [133478018, 133478173], [133483025, 133483119], [133483718, 133483751], [133485121, 133485277], [133486872, 133487008], [133489351, 133489416], [133494276, 133494461], [133495892, 133496082], [133497429, 133497850]] [[133465284, 133465327], [133467255, 133467428], [133472438, 133472547], [133473338, 133473515], [133474206, 133474339], [133475125, 133475181], [133475674, 133475853], [133476612, 133476790], [133478018, 133478173], [133483025, 133483119], [133483718, 133483751], [133485121, 133485277], [133486872, 133487008], [133489351, 133489416], [133494276, 133494461], [133495892, 133496082], [133497429, 133497464]]
ENST00000466911 [[133464883, 133465093], [133467255, 133467428], [133472438, 133472547], [133473338, 133473372]] [[133467344, 133467428], [133472438, 133472547], [133473338, 133473372]]
ENST00000474287 [[133465171, 133465327], [133467255, 133467428], [133472438, 133472754]] None
ENST00000460531 [[133465236, 133465327], [133472438, 133472924]] None
ENST00000414694 [[133465236, 133465327], [133467255, 133467513], [133472438, 133472547], [133473338, 133473426]] [[133465284, 133465327], [133467255, 133467513], [133472438, 133472485]]
ENST00000494430 [[133465236, 133465327], [133467255, 133467428], [133472438, 133472547], [133473346, 133473515], [133474206, 133474258]] [[133465284, 133465327], [133467255, 133467428], [133472438, 133472547], [133473346, 133473384]]
ENST00000493011 [[133465236, 133465327], [133467255, 133467428], [133472438, 133472547], [133473338, 133473515], [133474206, 133474655]] None
ENST00000482271 [[133465236, 133465327], [133472438, 133472547], [133473338, 133473515], [133474206, 133474339], [133475125, 133475181], [133475674, 133475767]] [[133473394, 133473515], [133474206, 133474339], [133475125, 133475181], [133475674, 133475767]]
ENST00000485977 [[133465236, 133465327], [133467255, 133467369], [133475775, 133475853], [133476612, 133476790], [133478018, 133478137]] [[133465284, 133465327], [133467255, 133467369], [133475775, 133475853], [133476612, 133476686]]
ENST00000264998 [[133465236, 133465327], [133472438, 133472547], [133473338, 133473515], [133474206, 133474339], [133475125, 133475181], [133475674, 133475853], [133476612, 133476790], [133478018, 133478173], [133483025, 133483119], [133483718, 133483751], [133485121, 133485277], [133486872, 133487008], [133489351, 133489416], [133494276, 133494461], [133495892, 133496082], [133497429, 133497635]] [[133473394, 133473515], [133474206, 133474339], [133475125, 133475181], [133475674, 133475853], [133476612, 133476790], [133478018, 133478173], [133483025, 133483119], [133483718, 133483751], [133485121, 133485277], [133486872, 133487008], [133489351, 133489416], [133494276, 133494461], [133495892, 133496082], [133497429, 133497464]]
ENST00000475382 [[133465993, 133466128], [133467255, 133467428], [133472438, 133472547], [133473338, 133473507]] None
ENST00000498622 [[133466983, 133467428], [133472438, 133472547], [133473338, 133473503]] None
ENST00000461695 [[133485121, 133485277], [133486872, 133487008], [133489351, 133489416], [133493722, 133493783], [133494276, 133494461], [133495892, 133496082], [133497429, 133497626]] [[133485121, 133485277], [133486872, 133487008], [133489351, 133489416], [133493722, 133493783], [133494276, 133494289]]
ENST00000462495 [[133486875, 133487008], [133489351, 133489800]] None
ENST00000467842 [[133491595, 133494461], [133495892, 133497628]] None
NM_001063 [[133464976, 133465327], [133467255, 133467428], [133472438, 133472547], [133473338, 133473515], [133474206, 133474339], [133475125, 133475181], [133475674, 133475853], [133476612, 133476790], [133478018, 133478173], [133483025, 133483119], [133483718, 133483751], [133485121, 133485277], [133486872, 133487008], [133489351, 133489416], [133494276, 133494461], [133495892, 133496082], [133497429, 133497850]] [[133465284, 133465327], [133467255, 133467428], [133472438, 133472547], [133473338, 133473515], [133474206, 133474339], [133475125, 133475181], [133475674, 133475853], [133476612, 133476790], [133478018, 133478173], [133483025, 133483119], [133483718, 133483751], [133485121, 133485277], [133486872, 133487008], [133489351, 133489416], [133494276, 133494461], [133495892, 133496082], [133497429, 133497464]]
Promoter
Chrom Start End Description
chr3 133465228 133465244 CAGE_peak_1_at_TF_5end
chr3 133467251 133467272 CAGE_peak_4_at_TF_5end
chr3 133467304 133467327 CAGE_peak_7_at_TF_5end
chr3 133473408 133473419 CAGE_peak_10_at_TF_5end
chr3 133473448 133473471 CAGE_peak_8_at_TF_5end
chr3 133483054 133483071 CAGE_peak_2_at_TF_5end
chr3 133486900 133486913 CAGE_peak_6_at_TF_5end
chr3 133486936 133486956 CAGE_peak_3_at_TF_5end
chr3 133493719 133493723 CAGE_peak_11_at_TF_5end
chr3 133494272 133494284 CAGE_peak_5_at_TF_5end
chr3 133494358 133494373 CAGE_peak_9_at_TF_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I133752 133752508 133754809 0.85 [{'connected_gene': 'TF', 'score': 11.41}, {'connected_gene': 'SRPRB', 'score': 6.08}, {'connected_gene': 'LOC100421637', 'score': 0.44}, {'connected_gene': 'PIR42738', 'score': 0.34}, {'connected_gene': 'TFP1', 'score': 0.16}]
chr3 GH03I133746 133746344 133746403 1.43 [{'connected_gene': 'TF', 'score': 554.58}, {'connected_gene': 'LOC100421637', 'score': 0.39}, {'connected_gene': 'PIR42738', 'score': 0.39}, {'connected_gene': 'TFP1', 'score': 0.18}]
chr3 GH03I133747 133747877 133748857 1.04 [{'connected_gene': 'TF', 'score': 5.21}, {'connected_gene': 'LOC100421637', 'score': 0.39}, {'connected_gene': 'PIR42738', 'score': 0.37}, {'connected_gene': 'TFP1', 'score': 0.17}]
chr3 GH03I133763 133763970 133765313 0.69 [{'connected_gene': 'SRPRB', 'score': 21.39}, {'connected_gene': 'TF', 'score': 21.09}, {'connected_gene': 'C3orf36', 'score': 10.12}, {'connected_gene': 'LOC100421637', 'score': 0.77}]
chr3 GH03I133754 133754943 133756097 0.31 [{'connected_gene': 'SRPRB', 'score': 17.49}, {'connected_gene': 'TF', 'score': 10.58}, {'connected_gene': 'LOC100421637', 'score': 0.77}, {'connected_gene': 'PIR42738', 'score': 0.34}]
chr3 GH03I133663 133663601 133664199 0.98 [{'connected_gene': 'TOPBP1', 'score': 554.96}, {'connected_gene': 'TFP1', 'score': 550.77}, {'connected_gene': 'TF', 'score': 550.77}, {'connected_gene': 'RNU6-678P', 'score': 550.77}]
chr3 GH03I133660 133660049 133663028 1.97 [{'connected_gene': 'TOPBP1', 'score': 565.61}, {'connected_gene': 'TFP1', 'score': 558.73}, {'connected_gene': 'TF', 'score': 555.1}, {'connected_gene': 'GC03P133653', 'score': 0.44}]
chr3 GH03I133742 133742480 133743248 1.34 [{'connected_gene': 'RNU6-678P', 'score': 10.22}, {'connected_gene': 'TOPBP1', 'score': 10.21}, {'connected_gene': 'TF', 'score': 7.84}, {'connected_gene': 'PIR42738', 'score': 0.44}, {'connected_gene': 'LOC100421637', 'score': 0.37}, {'connected_gene': 'TFP1', 'score': 0.18}]
chr3 GH03I133609 133609574 133609833 0.31 [{'connected_gene': 'TFP1', 'score': 11.5}, {'connected_gene': 'TOPBP1', 'score': 11.5}, {'connected_gene': 'TF', 'score': 4.48}, {'connected_gene': 'CDV3', 'score': 0.28}, {'connected_gene': 'GC03P133653', 'score': 0.26}]