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
ENST00000477822 [[153291663, 153292549], [153293406, 153295120]] None
ENST00000229758 [[153291663, 153292549], [153293406, 153293589], [153294180, 153294271], [153296041, 153296756], [153303991, 153304153]] [[153292297, 153292549], [153293406, 153293589], [153294180, 153294271], [153296041, 153296756], [153303991, 153304094]]
ENST00000367241 [[153291663, 153292549], [153293406, 153293589], [153294180, 153294271], [153296041, 153296756], [153304368, 153304714]] [[153292297, 153292549], [153293406, 153293589], [153294180, 153294271], [153296041, 153296721]]
NM_012177 [[153291653, 153292549], [153293406, 153293589], [153294180, 153294271], [153296041, 153296756], [153303991, 153304217]] [[153292297, 153292549], [153293406, 153293589], [153294180, 153294271], [153296041, 153296756], [153303991, 153304094]]
NM_001142522 [[153291653, 153292549], [153293406, 153293589], [153294180, 153294271], [153296041, 153296756], [153304368, 153304754]] [[153292297, 153292549], [153293406, 153293589], [153294180, 153294271], [153296041, 153296721]]
Promoter
Chrom Start End Description
chr6 153304148 153304160 CAGE_peak_3_at_FBXO5_5end
chr6 153304166 153304194 CAGE_peak_1_at_FBXO5_5end
chr6 153304697 153304734 CAGE_peak_2_at_FBXO5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I152975 152975001 152975800 0.77 [{'connected_gene': 'MTRF1L', 'score': 52.36}, {'connected_gene': 'FBXO5', 'score': 0.44}, {'connected_gene': 'ENSG00000227627', 'score': 0.44}, {'connected_gene': 'ENSG00000220745', 'score': 0.37}]
chr6 GH06I152978 152978601 152979000 0.38 [{'connected_gene': 'MTRF1L', 'score': 27.84}, {'connected_gene': 'FBXO5', 'score': 0.77}, {'connected_gene': 'ENSG00000227627', 'score': 0.77}, {'connected_gene': 'ENSG00000220745', 'score': 0.37}]
chr6 GH06I152980 152980263 152985920 2.09 [{'connected_gene': 'FBXO5', 'score': 608.13}, {'connected_gene': 'PIR33309', 'score': 550.77}, {'connected_gene': 'ENSG00000227627', 'score': 550.77}, {'connected_gene': 'GC06P152985', 'score': 550.77}, {'connected_gene': 'MTRF1L', 'score': 36.34}, {'connected_gene': 'RPL27AP6', 'score': 10.27}, {'connected_gene': 'ENSG00000220745', 'score': 0.34}]
chr6 GH06I152572 152572906 152573055 0.87 [{'connected_gene': 'FBXO5', 'score': 11.79}, {'connected_gene': 'NANOGP11', 'score': 0.31}, {'connected_gene': 'SYNE1', 'score': 0.21}]
chr6 GH06I153787 153787142 153788071 0.65 [{'connected_gene': 'FBXO5', 'score': 54.85}, {'connected_gene': 'SCAF8', 'score': 54.06}, {'connected_gene': 'RPL27AP6', 'score': 10.93}, {'connected_gene': 'RNU6-896P', 'score': 0.14}, {'connected_gene': 'GC06M153939', 'score': 0.1}]
chr6 GH06I153786 153786786 153786895 0.68 [{'connected_gene': 'FBXO5', 'score': 54.85}, {'connected_gene': 'SCAF8', 'score': 54.06}, {'connected_gene': 'RGS17', 'score': 11.36}, {'connected_gene': 'RPL27AP6', 'score': 10.93}, {'connected_gene': 'RNU6-896P', 'score': 0.14}, {'connected_gene': 'GC06M153939', 'score': 0.1}]
chr6 GH06I152458 152458288 152459662 0.84 [{'connected_gene': 'FBXO5', 'score': 10.93}, {'connected_gene': 'RNA5SP223', 'score': 10.73}, {'connected_gene': 'ENSG00000226193', 'score': 10.7}, {'connected_gene': 'SYNE1', 'score': 10.57}, {'connected_gene': 'GC06P152451', 'score': 0.44}, {'connected_gene': 'NANOGP11', 'score': 0.17}]
chr6 GH06I152093 152093804 152098346 1.15 [{'connected_gene': 'FBXO5', 'score': 19.4}, {'connected_gene': 'HSPA8P15', 'score': 12.92}, {'connected_gene': 'ZBTB2', 'score': 9.86}, {'connected_gene': 'ENSG00000284615', 'score': 0.37}, {'connected_gene': 'PIR34901', 'score': 0.19}, {'connected_gene': 'ESR1', 'score': 0.05}]
chr6 GH06I152049 152049914 152051187 0.52 [{'connected_gene': 'FBXO5', 'score': 12.18}, {'connected_gene': 'ENSG00000233823', 'score': 9.93}, {'connected_gene': 'HSPA8P15', 'score': 9.84}, {'connected_gene': 'PIR34901', 'score': 0.31}, {'connected_gene': 'ENSG00000284615', 'score': 0.21}, {'connected_gene': 'ESR1', 'score': 0.05}]