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
ENST00000514064 [[76481257, 76481359], [76481750, 76481794], [76488444, 76488532]] None
ENST00000511093 [[76481257, 76481359], [76488419, 76488555], [76489323, 76489462], [76489597, 76489855]] [[76481292, 76481359], [76488419, 76488475]]
ENST00000311623 [[76481257, 76481359], [76489323, 76491095]] [[76481292, 76481359], [76489323, 76489649]]
ENST00000435974 [[76481274, 76481359], [76481750, 76481794], [76489323, 76489754]] [[76481292, 76481359], [76481750, 76481794], [76489323, 76489743]]
Promoter
Chrom Start End Description
chr4 76481268 76481289 CAGE_peak_1_at_C4orf26_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I075701 75701860 75706972 1.03 [{'connected_gene': 'G3BP2', 'score': 18.94}, {'connected_gene': 'USO1', 'score': 18.4}, {'connected_gene': 'CDKL2', 'score': 11.04}, {'connected_gene': 'ODAPH', 'score': 10.13}, {'connected_gene': 'CCDC158', 'score': 5.36}, {'connected_gene': 'GC04M075663', 'score': 0.26}, {'connected_gene': 'ENSG00000201644', 'score': 0.26}]
chr4 GH04I075707 75707955 75708846 0.76 [{'connected_gene': 'CDKL2', 'score': 10.97}, {'connected_gene': 'ODAPH', 'score': 9.89}, {'connected_gene': 'G3BP2', 'score': 7.99}, {'connected_gene': 'USO1', 'score': 4.35}, {'connected_gene': 'GC04M075663', 'score': 0.25}, {'connected_gene': 'ENSG00000201644', 'score': 0.25}]
chr4 GH04I075629 75629697 75631386 1.89 [{'connected_gene': 'CDKL2', 'score': 550.77}, {'connected_gene': 'ODAPH', 'score': 10.17}, {'connected_gene': 'G3BP2', 'score': 7.78}, {'connected_gene': 'GC04M075630', 'score': 0.77}]
chr4 GH04I075710 75710200 75710401 0.46 [{'connected_gene': 'CDKL2', 'score': 10.97}, {'connected_gene': 'ODAPH', 'score': 9.89}, {'connected_gene': 'USO1', 'score': 5.0}, {'connected_gene': 'G3BP2', 'score': 0.39}, {'connected_gene': 'GC04M075663', 'score': 0.25}, {'connected_gene': 'ENSG00000201644', 'score': 0.25}]
chr4 GH04I075573 75573389 75574013 1.03 [{'connected_gene': 'CDKL2', 'score': 10.91}, {'connected_gene': 'ODAPH', 'score': 0.37}]
chr4 GH04I075722 75722181 75727304 2.26 [{'connected_gene': 'USO1', 'score': 557.88}, {'connected_gene': 'G3BP2', 'score': 550.77}, {'connected_gene': 'CDKL2', 'score': 10.08}, {'connected_gene': 'ODAPH', 'score': 9.56}, {'connected_gene': 'GC04P075797', 'score': 0.19}]
chr4 GH04I075682 75682980 75683431 0.31 [{'connected_gene': 'USO1', 'score': 11.65}, {'connected_gene': 'G3BP2', 'score': 11.65}, {'connected_gene': 'ODAPH', 'score': 10.1}, {'connected_gene': 'GC04M075663', 'score': 0.34}, {'connected_gene': 'ENSG00000201644', 'score': 0.34}]
chr4 GH04I075542 75542015 75544062 0.46 [{'connected_gene': 'USO1', 'score': 4.6}, {'connected_gene': 'ODAPH', 'score': 0.39}, {'connected_gene': 'PIR35294', 'score': 0.37}, {'connected_gene': 'THAP6', 'score': 0.29}]
chr4 GH04I075714 75714513 75716201 0.8 [{'connected_gene': 'ODAPH', 'score': 9.56}, {'connected_gene': 'USO1', 'score': 6.43}, {'connected_gene': 'G3BP2', 'score': 4.99}, {'connected_gene': 'GC04M075663', 'score': 0.23}, {'connected_gene': 'ENSG00000201644', 'score': 0.23}]
chr4 GH04I075555 75555226 75556385 1.36 [{'connected_gene': 'ODAPH', 'score': 558.08}, {'connected_gene': 'ART3', 'score': 4.04}, {'connected_gene': 'CDKL2', 'score': 0.19}]
chr4 GH04I075561 75561300 75562560 0.69 [{'connected_gene': 'ODAPH', 'score': 16.77}, {'connected_gene': 'RCHY1', 'score': 5.63}, {'connected_gene': 'CDKL2', 'score': 0.2}]
chr4 GH04I075548 75548001 75548200 0.65 [{'connected_gene': 'ODAPH', 'score': 0.44}, {'connected_gene': 'PIR35294', 'score': 0.34}, {'connected_gene': 'THAP6', 'score': 0.28}]