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
ENST00000296525 [[177134823, 177136878], [177137968, 177138160], [177142305, 177142440], [177142600, 177142751], [177143463, 177143571], [177146412, 177146492], [177190063, 177190373]] [[177136750, 177136878], [177137968, 177138160], [177142305, 177142440], [177142600, 177142751], [177143463, 177143571], [177146412, 177146492], [177190063, 177190259]]
ENST00000512254 [[177136723, 177136878], [177137968, 177138160], [177142305, 177142440], [177142600, 177142751], [177143463, 177143571], [177146412, 177146492], [177162612, 177162827]] [[177136750, 177136878], [177137968, 177138160], [177142305, 177142440], [177142600, 177142751], [177143463, 177143571], [177146412, 177146492], [177162612, 177162649]]
ENST00000511879 [[177142668, 177142751], [177143463, 177143571], [177146412, 177146492], [177158444, 177158725]] None
ENST00000510578 [[177146431, 177146492], [177170626, 177170709]] None
ENST00000505299 [[177190199, 177190348], [177196946, 177197057], [177198379, 177198722]] [[177190199, 177190259]]
NM_080874 [[177134823, 177136878], [177137968, 177138160], [177142305, 177142440], [177142600, 177142751], [177143463, 177143571], [177146412, 177146492], [177190063, 177190373]] [[177136750, 177136878], [177137968, 177138160], [177142305, 177142440], [177142600, 177142751], [177143463, 177143571], [177146412, 177146492], [177190063, 177190259]]
Promoter
Chrom Start End Description
chr4 177162822 177162845 CAGE_peak_8_at_ASB5_5end
chr4 177190139 177190150 CAGE_peak_6_at_ASB5_5end
chr4 177190269 177190282 CAGE_peak_2_at_ASB5_5end
chr4 177190304 177190315 CAGE_peak_3_at_ASB5_5end
chr4 177190364 177190379 CAGE_peak_1_at_ASB5_5end
chr4 177198555 177198566 CAGE_peak_5_at_ASB5_5end
chr4 177198663 177198680 CAGE_peak_4_at_ASB5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I176267 176267155 176275267 2.02 [{'connected_gene': 'ASB5', 'score': 569.13}, {'connected_gene': 'SPCS3', 'score': 5.26}, {'connected_gene': 'GC04M176057', 'score': 0.25}]
chr4 GH04I176237 176237034 176239310 1.04 [{'connected_gene': 'ASB5', 'score': 17.09}, {'connected_gene': 'GPM6A', 'score': 9.88}, {'connected_gene': 'GC04M176057', 'score': 0.37}]
chr4 GH04I176249 176249082 176251541 0.46 [{'connected_gene': 'ASB5', 'score': 25.72}, {'connected_gene': 'GC04M176057', 'score': 0.31}]
chr4 GH04I176228 176228880 176232128 0.2 [{'connected_gene': 'ASB5', 'score': 12.99}, {'connected_gene': 'GC04M176057', 'score': 0.44}]
chr4 GH04I176265 176265915 176266547 0.2 [{'connected_gene': 'ASB5', 'score': 0.39}, {'connected_gene': 'GC04M176057', 'score': 0.26}]
chr4 GH04I176258 176258916 176261875 0.89 [{'connected_gene': 'ASB5', 'score': 15.03}, {'connected_gene': 'GC04M176057', 'score': 0.28}]
chr4 GH04I176243 176243809 176245428 0.31 [{'connected_gene': 'ASB5', 'score': 17.74}, {'connected_gene': 'GC04M176057', 'score': 0.34}]
chr4 GH04I176277 176277201 176277400 0.63 [{'connected_gene': 'ASB5', 'score': 550.77}, {'connected_gene': 'GC04M176057', 'score': 0.23}]
chr4 GH04I176256 176256803 176257543 0.38 [{'connected_gene': 'ASB5', 'score': 12.3}, {'connected_gene': 'GC04M176057', 'score': 0.29}]
chr4 GH04I176225 176225964 176228216 0.54 [{'connected_gene': 'ASB5', 'score': 8.59}, {'connected_gene': 'GC04M176057', 'score': 0.77}]
chr4 GH04I176223 176223390 176224433 0.2 [{'connected_gene': 'GC04M176057', 'score': 550.77}, {'connected_gene': 'ASB5', 'score': 8.59}]

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