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
ENST00000367495 [[146864828, 146865257], [146870599, 146870877], [146875591, 146876101]] [[146865007, 146865257], [146870599, 146870877], [146875591, 146875741]]
NM_006834 [[146864827, 146865257], [146870599, 146870877], [146875591, 146876092]] [[146865007, 146865257], [146870599, 146870877], [146875591, 146875741]]
Promoter
Chrom Start End Description
chr6 146864655 146864678 CAGE_peak_6_at_RAB32_5end
chr6 146864707 146864733 CAGE_peak_5_at_RAB32_5end
chr6 146864862 146864881 CAGE_peak_3_at_RAB32_5end
chr6 146864912 146864917 CAGE_peak_4_at_RAB32_5end
chr6 146864935 146864949 CAGE_peak_2_at_RAB32_5end
chr6 146864960 146864999 CAGE_peak_1_at_RAB32_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I146289 146289846 146291114 1.25 [{'connected_gene': 'FBXO30', 'score': 8.95}, {'connected_gene': 'ENSG00000270638', 'score': 4.86}, {'connected_gene': 'RAB32', 'score': 1.95}, {'connected_gene': 'RNA5SP222', 'score': 0.25}, {'connected_gene': 'GC06P146172', 'score': 0.13}, {'connected_gene': 'GRM1', 'score': 0.05}]
chr6 GH06I146912 146912497 146917484 2.07 [{'connected_gene': 'STXBP5-AS1', 'score': 20.73}, {'connected_gene': 'SHPRH', 'score': 19.71}, {'connected_gene': 'ADGB', 'score': 6.76}, {'connected_gene': 'STXBP5', 'score': 4.73}, {'connected_gene': 'RAB32', 'score': 2.84}, {'connected_gene': 'ENSG00000272397', 'score': 0.28}, {'connected_gene': 'LOC105378042', 'score': 0.22}]
chr6 GH06I146434 146434201 146435000 0.43 [{'connected_gene': 'RAB32', 'score': 10.55}, {'connected_gene': 'ENSG00000216811', 'score': 0.2}, {'connected_gene': 'PIR37857', 'score': 0.14}, {'connected_gene': 'GRM1', 'score': 0.04}]
chr6 GH06I146542 146542922 146547769 2.31 [{'connected_gene': 'RAB32', 'score': 553.9}, {'connected_gene': 'SHPRH', 'score': 15.79}, {'connected_gene': 'LOC101928661', 'score': 10.89}, {'connected_gene': 'ADGB', 'score': 10.89}, {'connected_gene': 'GC06M146554', 'score': 0.44}]
chr6 GH06I146700 146700185 146700334 0.69 [{'connected_gene': 'RAB32', 'score': 11.2}, {'connected_gene': 'LOC101928661', 'score': 10.48}, {'connected_gene': 'ADGB', 'score': 10.48}, {'connected_gene': 'LOC105378041', 'score': 0.29}, {'connected_gene': 'RNU6-906P', 'score': 0.21}]
chr6 GH06I146595 146595925 146596400 0.69 [{'connected_gene': 'RAB32', 'score': 11.17}, {'connected_gene': 'LOC101928661', 'score': 0.77}, {'connected_gene': 'GC06M146554', 'score': 0.26}]
chr6 GH06I146337 146337525 146337674 0.2 [{'connected_gene': 'RAB32', 'score': 10.21}, {'connected_gene': 'RNA5SP222', 'score': 0.77}, {'connected_gene': 'GC06P146172', 'score': 0.1}, {'connected_gene': 'GRM1', 'score': 0.05}]
chr6 GH06I146336 146336465 146336554 0.2 [{'connected_gene': 'RAB32', 'score': 10.21}, {'connected_gene': 'RNA5SP222', 'score': 0.77}, {'connected_gene': 'GC06P146172', 'score': 0.1}, {'connected_gene': 'GRM1', 'score': 0.05}]
chr6 GH06I146548 146548897 146549094 1.15 [{'connected_gene': 'LOC101928661', 'score': 10.9}, {'connected_gene': 'ADGB', 'score': 10.9}, {'connected_gene': 'GC06M146554', 'score': 0.44}, {'connected_gene': 'RAB32', 'score': 0.44}]
chr6 GH06I146550 146550924 146551704 0.59 [{'connected_gene': 'LOC101928661', 'score': 10.9}, {'connected_gene': 'ADGB', 'score': 10.9}, {'connected_gene': 'GC06M146554', 'score': 0.77}, {'connected_gene': 'RAB32', 'score': 0.44}]
chr6 GH06I146339 146339673 146340184 0.6 [{'connected_gene': 'RNA5SP222', 'score': 550.77}, {'connected_gene': 'RAB32', 'score': 10.21}, {'connected_gene': 'GC06P146172', 'score': 0.1}, {'connected_gene': 'GRM1', 'score': 0.05}]