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
ENST00000338566 [[164265090, 164265152], [164266865, 164266905], [164268603, 164268674], [164271416, 164273086]] [[164271425, 164272763]]
ENST00000515560 [[164265253, 164266655], [164266865, 164266905], [164268603, 164268674], [164271416, 164273086]] [[164271425, 164272763]]
ENST00000506953 [[164271370, 164272788]] [[164271425, 164272763]]
NM_006174 [[164264998, 164265152], [164266865, 164266905], [164268603, 164268674], [164271416, 164273086]] [[164271425, 164272763]]
NM_001317092 [[164264998, 164265152], [164266865, 164266905], [164268388, 164268516], [164268603, 164268674], [164271416, 164273086]] [[164271425, 164272763]]
NM_001317091 [[164265253, 164266655], [164266865, 164266905], [164268603, 164268674], [164271416, 164273086]] [[164271425, 164272763]]
Promoter
Chrom Start End Description
chr4 164265035 164265079 CAGE_peak_1_at_NPY5R_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I163543 163543051 163543198 0.26 [{'connected_gene': 'TMA16', 'score': 12.32}, {'connected_gene': 'TKTL2', 'score': 10.7}, {'connected_gene': 'MARCH1', 'score': 2.36}, {'connected_gene': 'NPY5R', 'score': 2.31}, {'connected_gene': 'NPY1R', 'score': 1.94}, {'connected_gene': 'ENSG00000273449', 'score': 0.39}, {'connected_gene': 'PIR37872', 'score': 0.06}]
chr4 GH04I163343 163343379 163344675 1.1 [{'connected_gene': 'NPY1R', 'score': 550.77}, {'connected_gene': 'NPY5R', 'score': 550.77}]
chr4 GH04I163331 163331800 163333458 1.76 [{'connected_gene': 'NPY1R', 'score': 550.39}, {'connected_gene': 'LOC101928081', 'score': 10.75}, {'connected_gene': 'NPY5R', 'score': 0.39}, {'connected_gene': 'LOC133332', 'score': 0.2}]
chr4 GH04I163269 163269269 163269418 0.38 [{'connected_gene': 'LOC133332', 'score': 0.77}, {'connected_gene': 'GC04P163251', 'score': 0.37}, {'connected_gene': 'NPY5R', 'score': 0.19}]