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
ENST00000274024 [[120238404, 120240246], [120240690, 120240798], [120241824, 120241997], [120243190, 120243545]] [[120240195, 120240246], [120240690, 120240798], [120241824, 120241997], [120243190, 120243257]]
NM_000134 [[120238404, 120240246], [120240690, 120240798], [120241824, 120241997], [120243190, 120243316]] [[120240195, 120240246], [120240690, 120240798], [120241824, 120241997], [120243190, 120243257]]
Promoter
Chrom Start End Description
chr4 120243266 120243277 CAGE_peak_2_at_FABP2_5end
chr4 120243283 120243299 CAGE_peak_1_at_FABP2_5end
chr4 120243499 120243510 CAGE_peak_4_at_FABP2_5end
chr4 120243555 120243562 CAGE_peak_5_at_FABP2_5end
chr4 120243571 120243587 CAGE_peak_3_at_FABP2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I119370 119370357 119371400 0.85 [{'connected_gene': 'LOC645513', 'score': 49.65}, {'connected_gene': 'FABP2', 'score': 34.82}, {'connected_gene': 'KLHL2P1', 'score': 6.62}, {'connected_gene': 'RNU4-33P', 'score': 0.77}, {'connected_gene': 'PIRC19', 'score': 0.37}]
chr4 GH04I119102 119102053 119104806 1.54 [{'connected_gene': 'METTL14', 'score': 17.26}, {'connected_gene': 'CICP16', 'score': 15.46}, {'connected_gene': 'USP53', 'score': 15.35}, {'connected_gene': 'MYOZ2', 'score': 11.41}, {'connected_gene': 'SNHG8', 'score': 10.89}, {'connected_gene': 'FABP2', 'score': 6.89}, {'connected_gene': 'LOC102723967', 'score': 0.77}, {'connected_gene': 'GC04P119115', 'score': 0.39}]
chr4 GH04I119105 119105910 119107086 0.86 [{'connected_gene': 'USP53', 'score': 15.46}, {'connected_gene': 'FABP2', 'score': 4.63}, {'connected_gene': 'GC04P119115', 'score': 0.44}, {'connected_gene': 'LOC102723967', 'score': 0.44}]
chr4 GH04I119112 119112821 119114134 1 [{'connected_gene': 'USP53', 'score': 11.44}, {'connected_gene': 'FABP2', 'score': 8.19}, {'connected_gene': 'GC04P119115', 'score': 0.77}, {'connected_gene': 'LOC102723967', 'score': 0.39}]
chr4 GH04I119123 119123041 119124451 0.46 [{'connected_gene': 'USP53', 'score': 20.54}, {'connected_gene': 'FABP2', 'score': 12.39}, {'connected_gene': 'LOC101929762', 'score': 11.35}, {'connected_gene': 'LOC105377395', 'score': 0.77}, {'connected_gene': 'GC04P119115', 'score': 0.44}, {'connected_gene': 'LOC102723967', 'score': 0.34}]
chr4 GH04I119206 119206952 119215071 2.8 [{'connected_gene': 'USP53', 'score': 574.9}, {'connected_gene': 'LOC101929762', 'score': 550.77}, {'connected_gene': 'LOC645513', 'score': 30.9}, {'connected_gene': 'FABP2', 'score': 21.14}, {'connected_gene': 'METTL14', 'score': 10.29}, {'connected_gene': 'LOC729218', 'score': 10.11}, {'connected_gene': 'KLHL2P1', 'score': 6.1}, {'connected_gene': 'MRPL42P1', 'score': 0.37}]
chr4 GH04I119096 119096282 119096952 0.2 [{'connected_gene': 'MYOZ2', 'score': 10.52}, {'connected_gene': 'USP53', 'score': 9.45}, {'connected_gene': 'FABP2', 'score': 5.8}, {'connected_gene': 'LOC102723967', 'score': 0.77}, {'connected_gene': 'GC04M119070', 'score': 0.31}]
chr4 GH04I119319 119319260 119323294 1.02 [{'connected_gene': 'FABP2', 'score': 584.88}, {'connected_gene': 'LOC645513', 'score': 57.32}, {'connected_gene': 'KLHL2P1', 'score': 6.82}, {'connected_gene': 'ENSG00000260091', 'score': 5.34}, {'connected_gene': 'C4orf3', 'score': 0.37}]
chr4 GH04I119285 119284801 119285600 0.6 [{'connected_gene': 'FABP2', 'score': 27.4}, {'connected_gene': 'LOC645513', 'score': 19.43}, {'connected_gene': 'PIR34278', 'score': 0.37}, {'connected_gene': 'GC04P119302', 'score': 0.37}, {'connected_gene': 'LOC101929762', 'score': 0.19}, {'connected_gene': 'USP53', 'score': 0.19}]
chr4 GH04I119833 119833325 119835685 0.2 [{'connected_gene': 'FABP2', 'score': 7.63}, {'connected_gene': 'LOC645513', 'score': 7.05}, {'connected_gene': 'LINC01365', 'score': 0.31}, {'connected_gene': 'ENSG00000250183', 'score': 0.15}]
chr4 GH04I119623 119623210 119632962 2.13 [{'connected_gene': 'LOC105377396', 'score': 550.77}, {'connected_gene': 'GC04M119628', 'score': 550.77}, {'connected_gene': 'GC04P119639', 'score': 550.77}, {'connected_gene': 'PDE5A', 'score': 550.77}, {'connected_gene': 'LOC645513', 'score': 35.45}, {'connected_gene': 'USP53', 'score': 16.66}, {'connected_gene': 'FABP2', 'score': 6.5}, {'connected_gene': 'KLHL2P1', 'score': 5.87}, {'connected_gene': 'ENSG00000260091', 'score': 5.61}]
chr4 GH04I119298 119298111 119301779 2.05 [{'connected_gene': 'PIR34278', 'score': 550.77}, {'connected_gene': 'GC04P119302', 'score': 550.77}, {'connected_gene': 'C4orf3', 'score': 550.77}, {'connected_gene': 'LOC645513', 'score': 50.21}, {'connected_gene': 'FABP2', 'score': 28.8}, {'connected_gene': 'USP53', 'score': 21.49}, {'connected_gene': 'KLHL2P1', 'score': 6.72}, {'connected_gene': 'LOC101929762', 'score': 0.17}]