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
ENST00000263642 [[163123588, 163123889], [163123988, 163124079], [163124596, 163124787], [163128735, 163128897], [163130304, 163130454], [163133196, 163133456], [163133924, 163134203], [163134714, 163134838], [163136505, 163136622], [163137837, 163138055], [163138875, 163139086], [163144644, 163144865], [163150073, 163150178], [163163218, 163163365], [163167274, 163167443], [163174364, 163175213]] [[163123709, 163123889], [163123988, 163124079], [163124596, 163124787], [163128735, 163128897], [163130304, 163130454], [163133196, 163133456], [163133924, 163134203], [163134714, 163134838], [163136505, 163136622], [163137837, 163138055], [163138875, 163139086], [163144644, 163144865], [163150073, 163150178], [163163218, 163163365], [163167274, 163167443], [163174364, 163174817]]
ENST00000464129 [[163150073, 163150178], [163163218, 163163680]] None
ENST00000421365 [[163166656, 163167443], [163174364, 163175194]] [[163167230, 163167443], [163174364, 163174817]]
NM_022168 [[163123588, 163123889], [163123988, 163124079], [163124596, 163124787], [163128735, 163128897], [163130304, 163130454], [163133196, 163133456], [163133924, 163134203], [163134714, 163134838], [163136505, 163136622], [163137837, 163138055], [163138875, 163139086], [163144644, 163144865], [163150073, 163150178], [163163218, 163163365], [163167274, 163167443], [163174364, 163175218]] [[163123709, 163123889], [163123988, 163124079], [163124596, 163124787], [163128735, 163128897], [163130304, 163130454], [163133196, 163133456], [163133924, 163134203], [163134714, 163134838], [163136505, 163136622], [163137837, 163138055], [163138875, 163139086], [163144644, 163144865], [163150073, 163150178], [163163218, 163163365], [163167274, 163167443], [163174364, 163174817]]
Promoter
Chrom Start End Description
chr2 163137897 163137919 CAGE_peak_5_at_IFIH1_5end
chr2 163137977 163137989 CAGE_peak_10_at_IFIH1_5end
chr2 163138115 163138124 CAGE_peak_14_at_IFIH1_5end
chr2 163174639 163174649 CAGE_peak_12_at_IFIH1_5end
chr2 163175088 163175101 CAGE_peak_4_at_IFIH1_5end
chr2 163175133 163175222 CAGE_peak_1_at_IFIH1_5end
chr2 163175430 163175460 CAGE_peak_2_at_IFIH1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I162316 162316600 162320840 2.17 [{'connected_gene': 'IFIH1', 'score': 550.77}, {'connected_gene': 'GCA', 'score': 550.77}, {'connected_gene': 'FAP', 'score': 4.91}, {'connected_gene': 'GC02M162307', 'score': 0.39}]
chr2 GH02I161961 161961139 161961564 0.29 [{'connected_gene': 'IFIH1', 'score': 15.21}, {'connected_gene': 'RPEP5', 'score': 0.31}, {'connected_gene': 'ENSG00000230918', 'score': 0.14}, {'connected_gene': 'SLC4A10', 'score': 0.03}]
chr2 GH02I161988 161987387 161987601 0.22 [{'connected_gene': 'IFIH1', 'score': 9.41}, {'connected_gene': 'RPEP5', 'score': 0.22}, {'connected_gene': 'ENSG00000230918', 'score': 0.17}]
chr2 GH02I162258 162258833 162258948 0.44 [{'connected_gene': 'IFIH1', 'score': 3.68}, {'connected_gene': 'LOC105373724', 'score': 0.39}, {'connected_gene': 'GC02P162270', 'score': 0.39}]
chr2 GH02I162343 162343342 162345601 1.98 [{'connected_gene': 'GCA', 'score': 562.59}, {'connected_gene': 'IFIH1', 'score': 12.59}, {'connected_gene': 'FAP', 'score': 4.98}, {'connected_gene': 'GC02P162329', 'score': 0.37}, {'connected_gene': 'RNA5SP109', 'score': 0.1}]
chr2 GH02I162297 162297755 162298400 0.62 [{'connected_gene': 'FAP', 'score': 5.31}, {'connected_gene': 'GC02M162307', 'score': 0.39}, {'connected_gene': 'IFIH1', 'score': 0.34}, {'connected_gene': 'GC02P162270', 'score': 0.31}]
chr2 GH02I162301 162301291 162301420 0.62 [{'connected_gene': 'LOC101929532', 'score': 9.13}, {'connected_gene': 'GC02M162307', 'score': 0.44}, {'connected_gene': 'IFIH1', 'score': 0.37}, {'connected_gene': 'GC02P162270', 'score': 0.29}]