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
NM_001080837 [[26691289, 26691670], [26691816, 26691977], [26692142, 26692173]] [[26691289, 26691670], [26691816, 26691977], [26692142, 26692173]]
Promoter
Chrom Start End Description
chr17 26694801 26694812 CAGE_peak_5_at_SEBOX_5end
chr17 26694831 26694842 CAGE_peak_8_at_SEBOX_5end
chr17 26694940 26694949 CAGE_peak_6_at_SEBOX_5end
chr17 26694979 26695007 CAGE_peak_4_at_SEBOX_5end
chr17 26695013 26695024 CAGE_peak_7_at_SEBOX_5end
chr17 26695043 26695050 CAGE_peak_10_at_SEBOX_5end
chr17 26697257 26697268 CAGE_peak_3_at_SEBOX_5end,CAGE_peak_3_at_VTN_5end
chr17 26697276 26697303 CAGE_peak_2_at_SEBOX_5end,CAGE_peak_2_at_VTN_5end
chr17 26697304 26697335 CAGE_peak_1_at_SEBOX_5end,CAGE_peak_1_at_VTN_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I028500 28500953 28501306 0.95 [{'connected_gene': 'UNC119', 'score': 12.67}, {'connected_gene': 'PIGS', 'score': 11.5}, {'connected_gene': 'SPAG5-AS1', 'score': 11.01}, {'connected_gene': 'SGK494', 'score': 11.0}, {'connected_gene': 'SLC46A1', 'score': 10.71}, {'connected_gene': 'KIAA0100', 'score': 9.8}, {'connected_gene': 'FOXN1', 'score': 5.36}, {'connected_gene': 'SPAG5', 'score': 2.44}, {'connected_gene': 'SEBOX', 'score': 1.8}, {'connected_gene': 'TMEM97', 'score': 1.58}, {'connected_gene': 'RPL23A', 'score': 1.26}, {'connected_gene': 'SLC13A2', 'score': 0.31}, {'connected_gene': 'ENSG00000258472', 'score': 0.14}]
chr17 GH17I027950 27950810 27953014 0.54 [{'connected_gene': 'SEBOX', 'score': 13.96}, {'connected_gene': 'NOS2', 'score': 4.2}, {'connected_gene': 'LINC01992', 'score': 0.28}, {'connected_gene': 'LYRM9', 'score': 0.22}, {'connected_gene': 'GC17M027891', 'score': 0.22}]
chr17 GH17I028391 28391705 28391899 0.39 [{'connected_gene': 'SEBOX', 'score': 3.34}, {'connected_gene': 'SARM1', 'score': 1.92}, {'connected_gene': 'FOXN1', 'score': 1.63}, {'connected_gene': 'FAM222B', 'score': 1.18}, {'connected_gene': 'GC17M029117', 'score': 0.44}, {'connected_gene': 'ENSG00000279532', 'score': 0.37}]
chr17 GH17I028777 28777772 28778031 0.34 [{'connected_gene': 'SEBOX', 'score': 1.5}, {'connected_gene': 'RPL31P58', 'score': 0.34}, {'connected_gene': 'ENSG00000265840', 'score': 0.31}, {'connected_gene': 'FAM222B', 'score': 0.18}]