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
ENST00000327669 [[38813, 41627], [45439, 46385]] [[41607, 41627], [45439, 46385]]
ENST00000460464 [[41219, 41627], [42808, 42952]] None
ENST00000461026 [[41220, 41627], [46806, 46870]] None
NM_001077710 [[38813, 41627], [45439, 46588]] [[41607, 41627], [45439, 46385]]
Promoter
Chrom Start End Description
chr2 46434 46447 CAGE_peak_9_at_FAM110C_5end
chr2 46468 46483 CAGE_peak_3_at_FAM110C_5end
chr2 46488 46511 CAGE_peak_2_at_FAM110C_5end
chr2 46523 46567 CAGE_peak_1_at_FAM110C_5end
chr2 46850 46865 CAGE_peak_4_at_FAM110C_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I000043 43001 48004 2.23 [{'connected_gene': 'FAM110C', 'score': 550.77}, {'connected_gene': 'SH3YL1', 'score': 23.66}]
chr2 GH02I000040 40340 40930 0.63 [{'connected_gene': 'FAM110C', 'score': 0.44}]
chr2 GH02I000048 48021 48041 0.58 [{'connected_gene': 'FAM110C', 'score': 550.77}, {'connected_gene': 'GC02P000061', 'score': 0.39}]
chr2 GH02I000023 23582 25151 0.77 [{'connected_gene': 'FAM110C', 'score': 0.34}]
chr2 GH02I000033 33007 39505 1.02 [{'connected_gene': 'ALKAL2', 'score': 10.05}, {'connected_gene': 'LOC101927262', 'score': 10.05}, {'connected_gene': 'FAM110C', 'score': 5.93}, {'connected_gene': 'LOC105373346', 'score': 4.18}, {'connected_gene': 'SH3YL1', 'score': 4.04}]
chr2 GH02I000019 19332 20630 0.63 [{'connected_gene': 'SH3YL1', 'score': 5.82}, {'connected_gene': 'FAM110C', 'score': 0.31}]
chr2 GH02I000030 30530 31042 0.2 [{'connected_gene': 'SH3YL1', 'score': 22.31}, {'connected_gene': 'FAM110C', 'score': 0.37}]
chr2 GH02I000025 25461 30522 0.52 [{'connected_gene': 'LOC105373346', 'score': 4.64}, {'connected_gene': 'FAM110C', 'score': 0.37}]
chr2 GH02I000041 41118 41731 0.38 [{'connected_gene': 'ENSG00000227061', 'score': 4.58}, {'connected_gene': 'SH3YL1', 'score': 4.0}, {'connected_gene': 'FAM110C', 'score': 0.44}]