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
ENST00000284727 [[176040985, 176043130], [176043784, 176043978], [176044825, 176044906], [176046082, 176046194], [176046383, 176049335]] [[176043015, 176043130], [176043784, 176043978], [176044825, 176044906], [176046082, 176046121]]
ENST00000409194 [[176042794, 176043130], [176043784, 176043978], [176044825, 176044906], [176046082, 176046211], [176046383, 176046438]] [[176043015, 176043130], [176043784, 176043978], [176044825, 176044906], [176046082, 176046121]]
ENST00000392541 [[176042872, 176043130], [176043784, 176043978], [176044825, 176044906], [176046082, 176046391]] [[176043015, 176043130], [176043784, 176043978], [176044825, 176044906], [176046082, 176046121]]
ENST00000497075 [[176042913, 176043978], [176044825, 176044906], [176046082, 176046194], [176046383, 176046438]] None
ENST00000472782 [[176044372, 176044906], [176046082, 176046194], [176046383, 176046423]] None
Promoter
Chrom Start End Description
chr2 176046144 176046189 CAGE_peak_2_at_ATP5G3_5end
chr2 176046192 176046216 CAGE_peak_3_at_ATP5G3_5end
chr2 176046426 176046445 CAGE_peak_1_at_ATP5G3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I175233 175233233 175233362 0.69 [{'connected_gene': 'CIR1', 'score': 11.33}, {'connected_gene': 'ATP5MC3', 'score': 9.57}, {'connected_gene': 'GC02P175236', 'score': 0.77}, {'connected_gene': 'GC02P175227', 'score': 0.44}]
chr2 GH02I175180 175180126 175182367 2.11 [{'connected_gene': 'ATP5MC3', 'score': 578.85}, {'connected_gene': 'GC02P175182', 'score': 550.77}, {'connected_gene': 'HOXD9', 'score': 10.18}, {'connected_gene': 'CIR1', 'score': 10.0}, {'connected_gene': 'HOXD4', 'score': 9.8}, {'connected_gene': 'GC02M175181', 'score': 0.77}]
chr2 GH02I175096 175096878 175098164 0.38 [{'connected_gene': 'ATP5MC3', 'score': 16.07}, {'connected_gene': 'ENSG00000229750', 'score': 10.56}, {'connected_gene': 'ATF2', 'score': 10.56}, {'connected_gene': 'MIR933', 'score': 10.56}, {'connected_gene': 'ENSG00000277948', 'score': 0.77}, {'connected_gene': 'GC02P175143', 'score': 0.25}]
chr2 GH02I175154 175154264 175155194 0.87 [{'connected_gene': 'ATP5MC3', 'score': 15.45}, {'connected_gene': 'GC02P175143', 'score': 0.39}, {'connected_gene': 'ATF2', 'score': 0.39}, {'connected_gene': 'MIR933', 'score': 0.39}]
chr2 GH02I175061 175061876 175064007 0.95 [{'connected_gene': 'ATP5MC3', 'score': 25.17}, {'connected_gene': 'CHRNA1', 'score': 10.41}, {'connected_gene': 'CHN1', 'score': 10.32}, {'connected_gene': 'ENSG00000229750', 'score': 10.31}, {'connected_gene': 'MIR933', 'score': 10.31}, {'connected_gene': 'ATF2', 'score': 10.31}, {'connected_gene': 'GC02M175073', 'score': 0.39}, {'connected_gene': 'RPL21P31', 'score': 0.31}]
chr2 GH02I175362 175362464 175362890 0.4 [{'connected_gene': 'ATP5MC3', 'score': 5.03}, {'connected_gene': 'GC02M175297', 'score': 0.21}, {'connected_gene': 'LOC105373752', 'score': 0.14}, {'connected_gene': 'PIR53550', 'score': 0.12}]
chr2 GH02I175605 175605782 175606774 0.94 [{'connected_gene': 'HOXD13', 'score': 5.53}, {'connected_gene': 'ATP5MC3', 'score': 5.26}, {'connected_gene': 'GC02P175563', 'score': 0.26}, {'connected_gene': 'PIR35160', 'score': 0.18}, {'connected_gene': 'GC02P175686', 'score': 0.18}]
chr2 GH02I175373 175373271 175374000 0.68 [{'connected_gene': 'HOXD11', 'score': 9.45}, {'connected_gene': 'ATP5MC3', 'score': 5.57}, {'connected_gene': 'GC02M175297', 'score': 0.18}, {'connected_gene': 'PIR53550', 'score': 0.13}, {'connected_gene': 'LOC105373752', 'score': 0.13}]
chr2 GH02I174775 174775492 174780944 1.47 [{'connected_gene': 'CHN1', 'score': 16.24}, {'connected_gene': 'ATP5MC3', 'score': 4.31}, {'connected_gene': 'CIR1', 'score': 1.1}, {'connected_gene': 'LOC105373750', 'score': 0.77}, {'connected_gene': 'CHRNA1', 'score': 0.44}, {'connected_gene': 'H3F3AP4', 'score': 0.22}, {'connected_gene': 'GC02P174645', 'score': 0.12}]
chr2 GH02I174980 174980744 174981941 0.31 [{'connected_gene': 'CHN1', 'score': 24.95}, {'connected_gene': 'ATP5MC3', 'score': 4.2}, {'connected_gene': 'GC02P174978', 'score': 0.77}]
chr2 GH02I175165 175165207 175169453 2.1 [{'connected_gene': 'ENSG00000229750', 'score': 550.77}, {'connected_gene': 'ATF2', 'score': 550.77}, {'connected_gene': 'MIR933', 'score': 550.77}, {'connected_gene': 'ATP5MC3', 'score': 27.97}, {'connected_gene': 'GC02P175143', 'score': 0.34}]