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
ENST00000393715 [[12282912, 12283498], [12285023, 12285315], [12286489, 12286623], [12293756, 12293915]] [[12283458, 12283498], [12285023, 12285315], [12286489, 12286547]]
ENST00000351291 [[12283122, 12283498], [12285165, 12285315], [12286141, 12286407], [12286489, 12286623], [12289590, 12289671], [12291560, 12291623], [12293756, 12293852]] [[12283397, 12283498], [12285165, 12285315], [12286141, 12286407], [12286489, 12286623], [12289590, 12289671], [12291560, 12291623], [12293756, 12293852]]
ENST00000309608 [[12283122, 12283498], [12285165, 12285315], [12286489, 12286623], [12289590, 12289671], [12291560, 12291623], [12293756, 12293852]] [[12285227, 12285315], [12286489, 12286623], [12289590, 12289671], [12291560, 12291623], [12293756, 12293852]]
ENST00000262365 [[12283122, 12283498], [12285165, 12285315], [12286141, 12286407], [12286489, 12286623], [12287858, 12287960], [12289590, 12289671], [12291560, 12291623], [12293756, 12293852]] [[12283397, 12283498], [12285165, 12285315], [12286141, 12286407], [12286489, 12286623], [12287858, 12287960], [12289590, 12289671], [12291560, 12291623], [12293756, 12293852]]
ENST00000527331 [[12283403, 12283498], [12285165, 12285315], [12286141, 12286407], [12286489, 12286623], [12289590, 12289671], [12291560, 12291623], [12293756, 12293852]] [[12283403, 12283498], [12285165, 12285315], [12286141, 12286407], [12286489, 12286623], [12289590, 12289671], [12291560, 12291623], [12293756, 12293852]]
ENST00000532480 [[12285242, 12285315], [12286489, 12286623], [12289590, 12289671], [12291560, 12291623], [12293756, 12293852]] [[12285242, 12285315], [12286489, 12286623], [12289590, 12289671], [12291560, 12291623], [12293756, 12293852]]
NM_001137610 [[12283122, 12283498], [12285165, 12285315], [12286141, 12286407], [12286489, 12286623], [12287858, 12287960], [12289590, 12289671], [12291560, 12291623], [12293756, 12293852]] [[12283397, 12283498], [12285165, 12285315], [12286141, 12286407], [12286489, 12286623], [12287858, 12287960], [12289590, 12289671], [12291560, 12291623], [12293756, 12293852]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I011482 11482572 11484539 1.01 [{'connected_gene': 'FAM167A', 'score': 24.74}, {'connected_gene': 'FAM90A2P', 'score': 14.63}, {'connected_gene': 'LOC105379241', 'score': 14.21}, {'connected_gene': 'PINX1', 'score': 13.36}, {'connected_gene': 'LOC101929290', 'score': 13.07}, {'connected_gene': 'FAM86B1', 'score': 11.89}, {'connected_gene': 'FAM66A', 'score': 11.41}, {'connected_gene': 'MTMR9', 'score': 11.17}, {'connected_gene': 'FAM66D', 'score': 11.16}, {'connected_gene': 'ENPP7P12', 'score': 9.83}, {'connected_gene': 'FAM86B2', 'score': 9.69}, {'connected_gene': 'ENSG00000269918', 'score': 4.83}, {'connected_gene': 'BLK', 'score': 0.39}]
chr8 GH08I011506 11506133 11518124 1.63 [{'connected_gene': 'PINX1', 'score': 81.84}, {'connected_gene': 'LOC101929290', 'score': 79.19}, {'connected_gene': 'FAM90A2P', 'score': 34.12}, {'connected_gene': 'MTMR9', 'score': 30.38}, {'connected_gene': 'FAM66A', 'score': 30.21}, {'connected_gene': 'FAM167A', 'score': 24.61}, {'connected_gene': 'LOC105379241', 'score': 22.07}, {'connected_gene': 'FAM66D', 'score': 19.37}, {'connected_gene': 'FAM86B1', 'score': 11.89}, {'connected_gene': 'ENSG00000255518', 'score': 11.09}, {'connected_gene': 'ENSG00000255354', 'score': 11.09}, {'connected_gene': 'ENPP7P6', 'score': 10.34}, {'connected_gene': 'ENPP7P12', 'score': 9.83}, {'connected_gene': 'FAM86B2', 'score': 9.69}, {'connected_gene': 'LOC100129129', 'score': 6.2}, {'connected_gene': 'ENSG00000269954', 'score': 6.05}, {'connected_gene': 'ENSG00000255310', 'score': 5.95}, {'connected_gene': 'ENSG00000269918', 'score': 5.76}, {'connected_gene': 'ENSG00000270154', 'score': 5.14}, {'connected_gene': 'BLK', 'score': 4.13}]
chr8 GH08I011799 11799212 11810431 2.3 [{'connected_gene': 'FDFT1', 'score': 571.66}, {'connected_gene': 'PINX1', 'score': 30.87}, {'connected_gene': 'LOC101929290', 'score': 14.46}, {'connected_gene': 'NEIL2', 'score': 13.2}, {'connected_gene': 'CTSB', 'score': 13.05}, {'connected_gene': 'FAM86B2', 'score': 12.55}, {'connected_gene': 'LOC105379241', 'score': 10.63}, {'connected_gene': 'BLK', 'score': 10.62}, {'connected_gene': 'RPS3AP34', 'score': 10.38}, {'connected_gene': 'ENSG00000255122', 'score': 10.14}, {'connected_gene': 'SUB1P1', 'score': 7.54}, {'connected_gene': 'FAM85A', 'score': 4.46}, {'connected_gene': 'LOC105379243', 'score': 0.77}, {'connected_gene': 'PIR48315', 'score': 0.29}]
chr8 GH08I013264 13264195 13277623 2.2 [{'connected_gene': 'ENPP7P6', 'score': 19.3}, {'connected_gene': 'RPS3AP34', 'score': 18.98}, {'connected_gene': 'LOC101930149', 'score': 16.66}, {'connected_gene': 'FAM66A', 'score': 11.41}, {'connected_gene': 'ENSG00000255122', 'score': 10.14}, {'connected_gene': 'FAM86B2', 'score': 9.69}, {'connected_gene': 'DLC1', 'score': 7.77}, {'connected_gene': 'GC08M013255', 'score': 0.44}]
chr8 GH08I011994 11994843 11995949 0.56 [{'connected_gene': 'LOC105379241', 'score': 11.36}, {'connected_gene': 'FAM86B2', 'score': 5.98}, {'connected_gene': 'LOC100421446', 'score': 0.77}, {'connected_gene': 'DEFB134', 'score': 0.44}, {'connected_gene': 'DEFB135', 'score': 0.39}, {'connected_gene': 'GC08M011947', 'score': 0.1}]
chr8 GH08I013245 13245959 13248800 1.21 [{'connected_gene': 'DLC1', 'score': 11.78}, {'connected_gene': 'FAM86B2', 'score': 4.99}, {'connected_gene': 'GC08M013255', 'score': 0.37}, {'connected_gene': 'GC08M013094', 'score': 0.21}]
chr8 GH08I012437 12437800 12438000 0.84 [{'connected_gene': 'LOC100506990', 'score': 550.77}, {'connected_gene': 'FAM86B2', 'score': 550.77}, {'connected_gene': 'DEFB109E', 'score': 0.44}]
chr8 GH08I012438 12438201 12438400 0.2 [{'connected_gene': 'LOC100506990', 'score': 550.77}, {'connected_gene': 'FAM86B2', 'score': 550.77}, {'connected_gene': 'DEFB109E', 'score': 0.44}]
chr8 GH08I012435 12435800 12437601 1.65 [{'connected_gene': 'LOC100506990', 'score': 550.77}, {'connected_gene': 'FAM86B2', 'score': 550.77}]
chr8 GH08I012430 12430800 12431201 0.2 [{'connected_gene': 'GC08M012424', 'score': 0.44}, {'connected_gene': 'FAM86B2', 'score': 0.44}]