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
ENST00000360488 [[25912981, 25913679], [25914807, 25914898], [25915963, 25916096], [25916912, 25917074], [25917196, 25917315], [25918714, 25918801], [25921233, 25921321], [25921406, 25921640], [25923922, 25924134], [25925996, 25926107], [25930504, 25930839]] [[25913522, 25913679], [25914807, 25914898], [25915963, 25916096], [25916912, 25917074], [25917196, 25917315], [25918714, 25918801], [25921233, 25921321], [25921406, 25921640], [25923922, 25924134], [25925996, 25926024]]
ENST00000377850 [[25912981, 25913679], [25914807, 25914898], [25915726, 25915874], [25915963, 25916096], [25916912, 25917074], [25917196, 25917315], [25918714, 25918801], [25921233, 25921321], [25921406, 25921640], [25923922, 25924134], [25925996, 25926107], [25930504, 25930946]] [[25913544, 25913679], [25914807, 25914898], [25915726, 25915874], [25915963, 25916096], [25916912, 25917074], [25917196, 25917315], [25918714, 25918801], [25921233, 25921321], [25921406, 25921640], [25923922, 25924134], [25925996, 25926024]]
ENST00000265425 [[25913544, 25913679], [25914772, 25914898], [25915726, 25915874], [25915963, 25916096], [25916912, 25917074], [25917196, 25917315], [25918714, 25918801], [25921233, 25921321], [25921406, 25921640], [25923922, 25924134], [25925996, 25926045]] [[25914789, 25914898], [25915726, 25915874], [25915963, 25916096], [25916912, 25917074], [25917196, 25917315], [25918714, 25918801], [25921233, 25921321], [25921406, 25921640], [25923922, 25924134], [25925996, 25926024]]
NM_001286123 [[25912981, 25913679], [25914807, 25914898], [25915726, 25915874], [25915963, 25916096], [25916912, 25917074], [25917196, 25917315], [25918714, 25918801], [25921233, 25921321], [25921406, 25921640], [25923922, 25924134], [25925996, 25926107]] [[25913544, 25913679], [25914807, 25914898], [25915726, 25915874], [25915963, 25916096], [25916912, 25917074], [25917196, 25917315], [25918714, 25918801], [25921233, 25921321], [25921406, 25921640], [25923922, 25924134], [25925996, 25926024]]
NM_001286125 [[25912981, 25913679], [25914772, 25914898], [25915963, 25916096], [25916912, 25917074], [25917196, 25917315], [25918714, 25918801], [25921233, 25921321], [25921406, 25921640], [25923922, 25924134], [25925996, 25926107]] [[25913671, 25913679], [25914772, 25914898], [25915963, 25916096], [25916912, 25917074], [25917196, 25917315], [25918714, 25918801], [25921233, 25921321], [25921406, 25921640], [25923922, 25924134], [25925996, 25926024]]
NM_005835 [[25912981, 25913679], [25914807, 25914898], [25915963, 25916096], [25916912, 25917074], [25917196, 25917315], [25918714, 25918801], [25921233, 25921321], [25921406, 25921640], [25923922, 25924134], [25925996, 25926107], [25930504, 25930954]] [[25913522, 25913679], [25914807, 25914898], [25915963, 25916096], [25916912, 25917074], [25917196, 25917315], [25918714, 25918801], [25921233, 25921321], [25921406, 25921640], [25923922, 25924134], [25925996, 25926024]]
Promoter
Chrom Start End Description
chr6 25930819 25930838 CAGE_peak_3_at_SLC17A2_5end
chr6 25930840 25930859 CAGE_peak_2_at_SLC17A2_5end
chr6 25930904 25930926 CAGE_peak_1_at_SLC17A2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I025958 25958667 25965176 2.24 [{'connected_gene': 'TRIM38', 'score': 561.52}, {'connected_gene': 'ENSG00000272462', 'score': 29.55}, {'connected_gene': 'ABT1', 'score': 15.98}, {'connected_gene': 'NUP50P2', 'score': 12.25}, {'connected_gene': 'HMGN4', 'score': 10.87}, {'connected_gene': 'BTN2A3P', 'score': 10.28}, {'connected_gene': 'BTN3A2', 'score': 9.99}, {'connected_gene': 'BTN2A1', 'score': 9.8}, {'connected_gene': 'SLC17A4', 'score': 9.54}, {'connected_gene': 'SLC17A2', 'score': 0.29}, {'connected_gene': 'GC06P025915', 'score': 0.25}]
chr6 GH06I025930 25930681 25930740 1.11 [{'connected_gene': 'SLC17A2', 'score': 550.77}, {'connected_gene': 'GC06P025925', 'score': 0.77}, {'connected_gene': 'GC06P025915', 'score': 0.37}]
chr6 GH06I025865 25865776 25866659 0.77 [{'connected_gene': 'ENSG00000272462', 'score': 37.13}, {'connected_gene': 'SLC17A1', 'score': 16.52}, {'connected_gene': 'BTN3A2', 'score': 15.76}, {'connected_gene': 'SLC17A2', 'score': 11.66}, {'connected_gene': 'SLC17A4', 'score': 10.43}, {'connected_gene': 'SLC17A3', 'score': 0.37}, {'connected_gene': 'PIR39663', 'score': 0.31}]
chr6 GH06I025952 25952004 25953845 0.66 [{'connected_gene': 'ENSG00000272462', 'score': 26.87}, {'connected_gene': 'TRIM38', 'score': 11.19}, {'connected_gene': 'SLC17A2', 'score': 0.34}, {'connected_gene': 'GC06P025915', 'score': 0.28}]