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
ENST00000409682 [[162164548, 162165115], [162172947, 162173080], [162175332, 162175384], [162223988, 162224060], [162224294, 162224414], [162226617, 162226688], [162227682, 162227833], [162241974, 162242082], [162247614, 162247689], [162251588, 162251714], [162265347, 162265410], [162267812, 162268228]] [[162175336, 162175384], [162223988, 162224060], [162224294, 162224414], [162226617, 162226688], [162227682, 162227833], [162241974, 162242082], [162247614, 162247689], [162251588, 162251714], [162265347, 162265410], [162267812, 162267911]]
ENST00000477232 [[162237870, 162242082], [162247614, 162247689], [162251588, 162251714], [162265347, 162265410], [162267812, 162268226]] None
ENST00000492908 [[162264038, 162265410], [162267812, 162268226]] None
ENST00000478123 [[162164971, 162165115], [162172947, 162173080], [162175332, 162175533]] None
ENST00000437630 [[162165110, 162165297], [162172947, 162173080], [162175332, 162175384], [162223988, 162224060], [162224294, 162224414], [162226617, 162226630]] [[162175336, 162175384], [162223988, 162224060], [162224294, 162224414], [162226617, 162226630]]
NM_005805 [[162164785, 162165115], [162172947, 162173080], [162175332, 162175384], [162223988, 162224060], [162224294, 162224414], [162226617, 162226688], [162227682, 162227833], [162241974, 162242082], [162247614, 162247689], [162251588, 162251714], [162265347, 162265410], [162267812, 162268228]] [[162175336, 162175384], [162223988, 162224060], [162224294, 162224414], [162226617, 162226688], [162227682, 162227833], [162241974, 162242082], [162247614, 162247689], [162251588, 162251714], [162265347, 162265410], [162267812, 162267911]]
Promoter
Chrom Start End Description
chr2 162164918 162165013 CAGE_peak_1_at_PSMD14_5end
chr2 162165038 162165053 CAGE_peak_2_at_PSMD14_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I161307 161307300 161310231 2.1 [{'connected_gene': 'PSMD14', 'score': 550.77}, {'connected_gene': 'LOC101929512', 'score': 550.77}, {'connected_gene': 'LINC01806', 'score': 32.03}, {'connected_gene': 'TANK', 'score': 9.94}, {'connected_gene': 'GC02M161340', 'score': 0.29}]
chr2 GH02I161381 161381826 161382542 0.51 [{'connected_gene': 'LOC100506055', 'score': 12.45}, {'connected_gene': 'ENSG00000224076', 'score': 10.64}, {'connected_gene': 'SLC4A10', 'score': 10.64}, {'connected_gene': 'ENSG00000251621', 'score': 10.64}, {'connected_gene': 'RNA5SP108', 'score': 0.31}, {'connected_gene': 'PSMD14', 'score': 0.19}]
chr2 GH02I161356 161356126 161356370 0.4 [{'connected_gene': 'LOC100506055', 'score': 0.39}, {'connected_gene': 'PSMD14', 'score': 0.25}, {'connected_gene': 'RNA5SP108', 'score': 0.23}]
chr2 GH02I161340 161340801 161341401 1.03 [{'connected_gene': 'LOC100506055', 'score': 550.77}, {'connected_gene': 'GC02M161340', 'score': 550.77}, {'connected_gene': 'PSMD14', 'score': 0.29}]
chr2 GH02I161360 161360190 161360339 0.6 [{'connected_gene': 'LOC100506055', 'score': 0.37}, {'connected_gene': 'RNA5SP108', 'score': 0.25}, {'connected_gene': 'PSMD14', 'score': 0.23}]
chr2 GH02I161371 161371980 161372212 0.63 [{'connected_gene': 'LOC100506055', 'score': 11.97}, {'connected_gene': 'RNA5SP108', 'score': 0.28}, {'connected_gene': 'PSMD14', 'score': 0.21}]
chr2 GH02I161284 161282330 161282499 0.2 [{'connected_gene': 'ENSG00000225813', 'score': 550.77}, {'connected_gene': 'PSMD14', 'score': 0.31}, {'connected_gene': 'LOC101929512', 'score': 0.31}]