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
ENST00000608836 [[37311593, 37311713], [37315511, 37315583], [37316782, 37317009], [37317823, 37317865], [37319058, 37319179], [37319307, 37319398], [37321224, 37321338], [37322579, 37322661], [37323350, 37323738]] [[37315536, 37315583], [37316782, 37317009], [37317823, 37317865], [37319058, 37319179], [37319307, 37319398], [37321224, 37321338], [37322579, 37322661], [37323350, 37323406]]
ENST00000409774 [[37311593, 37311713], [37315511, 37315583], [37316782, 37317009], [37317823, 37317865], [37319058, 37319179], [37319307, 37319398], [37321224, 37321338], [37322579, 37322661], [37323350, 37326387]] [[37311660, 37311713], [37315511, 37315583], [37316782, 37317009], [37317823, 37317865], [37319058, 37319179], [37319307, 37319398], [37321224, 37321338], [37322579, 37322661], [37323350, 37323406]]
ENST00000281932 [[37311660, 37311713], [37315511, 37315583], [37319058, 37319179], [37319307, 37319398], [37321224, 37321338], [37322579, 37322661], [37323350, 37326387]] [[37315576, 37315583], [37319058, 37319179], [37319307, 37319398], [37321224, 37321338], [37322579, 37322661], [37323350, 37323406]]
ENST00000473067 [[37315506, 37315583], [37319058, 37319179], [37319307, 37319398], [37321224, 37321467]] None
NM_001278505 [[37311593, 37311713], [37315511, 37315583], [37319058, 37319179], [37319307, 37319398], [37321224, 37321338], [37322579, 37322661], [37323350, 37326387]] [[37315576, 37315583], [37319058, 37319179], [37319307, 37319398], [37321224, 37321338], [37322579, 37322661], [37323350, 37323406]]
NM_001322249 [[37311593, 37311713], [37315511, 37315583], [37316782, 37317009], [37319058, 37319179], [37319307, 37319398], [37321224, 37321338], [37322579, 37322661], [37323350, 37326387]] [[37311660, 37311713], [37315511, 37315583], [37316782, 37317009], [37319058, 37319179], [37319307, 37319398], [37321224, 37321338], [37322579, 37322661], [37323350, 37323406]]
NM_174931 [[37311593, 37311713], [37315511, 37315583], [37316782, 37317009], [37317823, 37317865], [37319058, 37319179], [37319307, 37319398], [37321224, 37321338], [37322579, 37322661], [37323350, 37326387]] [[37311660, 37311713], [37315511, 37315583], [37316782, 37317009], [37317823, 37317865], [37319058, 37319179], [37319307, 37319398], [37321224, 37321338], [37322579, 37322661], [37323350, 37323406]]
Promoter
Chrom Start End Description
chr2 37311588 37311602 CAGE_peak_2_at_CCDC75_5end
chr2 37311630 37311643 CAGE_peak_3_at_CCDC75_5end
chr2 37311645 37311692 CAGE_peak_1_at_CCDC75_5end
chr2 37319058 37319070 CAGE_peak_4_at_CCDC75_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I036961 36961576 36968848 2.29 [{'connected_gene': 'STRN', 'score': 562.56}, {'connected_gene': 'ENSG00000272054', 'score': 12.37}, {'connected_gene': 'GPATCH11', 'score': 5.52}, {'connected_gene': 'GC02P036908', 'score': 0.22}, {'connected_gene': 'HEATR5B', 'score': 0.13}]
chr2 GH02I037012 37012601 37013998 0.91 [{'connected_gene': 'STRN', 'score': 16.37}, {'connected_gene': 'GPATCH11', 'score': 5.13}, {'connected_gene': 'GC02M036982', 'score': 0.31}, {'connected_gene': 'HEATR5B', 'score': 0.19}]
chr2 GH02I037223 37223446 37225428 0.46 [{'connected_gene': 'NDUFAF7', 'score': 4.85}, {'connected_gene': 'GPATCH11', 'score': 4.47}, {'connected_gene': 'CEBPZ', 'score': 0.44}, {'connected_gene': 'ENSG00000272054', 'score': 0.37}]
chr2 GH02I037060 37060163 37061007 0.2 [{'connected_gene': 'HEATR5B', 'score': 17.42}, {'connected_gene': 'GPATCH11', 'score': 12.61}, {'connected_gene': 'STRN', 'score': 10.48}, {'connected_gene': 'GC02M036982', 'score': 0.18}]
chr2 GH02I037110 37110898 37111027 0.31 [{'connected_gene': 'HEATR5B', 'score': 12.98}, {'connected_gene': 'GPATCH11', 'score': 12.98}, {'connected_gene': 'ENSG00000224891', 'score': 0.28}, {'connected_gene': 'EIF2AK2', 'score': 0.25}]
chr2 GH02I037083 37083091 37085468 2.03 [{'connected_gene': 'HEATR5B', 'score': 565.13}, {'connected_gene': 'GPATCH11', 'score': 550.77}, {'connected_gene': 'ENSG00000272054', 'score': 20.54}, {'connected_gene': 'CEBPZ', 'score': 10.31}, {'connected_gene': 'GC02M036982', 'score': 0.15}]
chr2 GH02I037085 37085698 37086087 0.54 [{'connected_gene': 'HEATR5B', 'score': 555.76}, {'connected_gene': 'GPATCH11', 'score': 550.77}, {'connected_gene': 'ENSG00000224891', 'score': 0.21}]
chr2 GH02I036476 36476043 36481022 1.08 [{'connected_gene': 'CRIM1', 'score': 16.77}, {'connected_gene': 'GPATCH11', 'score': 4.34}, {'connected_gene': 'ENSG00000273090', 'score': 0.28}, {'connected_gene': 'GC02P036388', 'score': 0.16}]
chr2 GH02I037098 37098017 37099724 0.43 [{'connected_gene': 'GPATCH11', 'score': 11.7}, {'connected_gene': 'EIF2AK2', 'score': 10.72}, {'connected_gene': 'HEATR5B', 'score': 5.15}, {'connected_gene': 'CEBPZOS', 'score': 4.53}, {'connected_gene': 'ENSG00000224891', 'score': 0.25}]
chr2 GH02I037103 37103798 37103987 0.87 [{'connected_gene': 'GPATCH11', 'score': 0.37}, {'connected_gene': 'ENSG00000224891', 'score': 0.26}, {'connected_gene': 'EIF2AK2', 'score': 0.23}]
chr2 GH02I037062 37062845 37063799 0.2 [{'connected_gene': 'GPATCH11', 'score': 21.77}, {'connected_gene': 'HEATR5B', 'score': 11.9}, {'connected_gene': 'GC02M036982', 'score': 0.18}]
chr2 GH02I037079 37079369 37081960 0.83 [{'connected_gene': 'GPATCH11', 'score': 12.5}, {'connected_gene': 'CEBPZOS', 'score': 6.31}, {'connected_gene': 'HEATR5B', 'score': 5.99}, {'connected_gene': 'GC02M036982', 'score': 0.15}]
chr2 GH02I037375 37375877 37379187 1.64 [{'connected_gene': 'PRKD3', 'score': 11.02}, {'connected_gene': 'LOC101929542', 'score': 11.02}, {'connected_gene': 'RNU6-939P', 'score': 10.88}, {'connected_gene': 'CDC42EP3', 'score': 9.36}, {'connected_gene': 'RMDN2', 'score': 9.25}, {'connected_gene': 'CYP1B1', 'score': 9.16}, {'connected_gene': 'QPCT', 'score': 3.53}, {'connected_gene': 'GPATCH11', 'score': 1.4}, {'connected_gene': 'GC02P037427', 'score': 0.25}]
chr2 GH02I037125 37125151 37126044 0.2 [{'connected_gene': 'CEBPZ', 'score': 15.47}, {'connected_gene': 'NDUFAF7', 'score': 11.15}, {'connected_gene': 'HEATR5B', 'score': 5.04}, {'connected_gene': 'ENSG00000224891', 'score': 0.34}, {'connected_gene': 'EIF2AK2', 'score': 0.29}, {'connected_gene': 'GPATCH11', 'score': 0.26}]
chr2 GH02I037089 37089677 37092335 0.96 [{'connected_gene': 'CEBPZ', 'score': 15.01}, {'connected_gene': 'NDUFAF7', 'score': 10.59}, {'connected_gene': 'CEBPZOS', 'score': 6.88}, {'connected_gene': 'GPATCH11', 'score': 6.52}, {'connected_gene': 'STRN', 'score': 5.74}, {'connected_gene': 'HEATR5B', 'score': 5.42}, {'connected_gene': 'ENSG00000224891', 'score': 0.22}]
chr2 GH02I037118 37118672 37119588 0.56 [{'connected_gene': 'CEBPZOS', 'score': 5.89}, {'connected_gene': 'ENSG00000224891', 'score': 0.31}, {'connected_gene': 'GPATCH11', 'score': 0.29}, {'connected_gene': 'EIF2AK2', 'score': 0.28}]
chr2 GH02I037147 37147731 37147790 0.5 [{'connected_gene': 'ENSG00000224891', 'score': 550.77}, {'connected_gene': 'EIF2AK2', 'score': 550.44}, {'connected_gene': 'GPATCH11', 'score': 0.21}]