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
ENST00000557982 [[90220994, 90221163], [90224500, 90224771], [90233807, 90234013]] None
ENST00000561224 [[90224535, 90224771], [90229661, 90229777], [90233807, 90233984]] [[90224748, 90224771], [90229661, 90229777], [90233807, 90233863]]
ENST00000300056 [[90224761, 90227179], [90229661, 90229777], [90233807, 90234013]] [[90226607, 90227179], [90229661, 90229777], [90233807, 90233863]]
ENST00000561257 [[90226310, 90227086], [90229661, 90229777], [90233807, 90233893]] [[90226607, 90227086], [90229661, 90229777], [90233807, 90233863]]
ENST00000559170 [[90226481, 90227179], [90233807, 90234014]] [[90227136, 90227179], [90233807, 90233863]]
NM_003847 [[90224761, 90227179], [90229661, 90229777], [90233807, 90234015]] [[90226607, 90227179], [90229661, 90229777], [90233807, 90233863]]
NM_001271572 [[90224761, 90227086], [90229661, 90229777], [90233807, 90234015]] [[90226607, 90227086], [90229661, 90229777], [90233807, 90233863]]
NM_001271573 [[90224761, 90227179], [90233807, 90234015]] [[90226607, 90226916]]
Promoter
Chrom Start End Description
chr15 90233866 90233883 CAGE_peak_2_at_PEX11A_5end
chr15 90233907 90233991 CAGE_peak_1_at_PEX11A_5end
chr15 90234006 90234017 CAGE_peak_3_at_PEX11A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I089548 89548126 89549218 0.2 [{'connected_gene': 'TICRR', 'score': 10.34}, {'connected_gene': 'PEX11A', 'score': 5.67}, {'connected_gene': 'LINC00928', 'score': 0.34}, {'connected_gene': 'ENSG00000259713', 'score': 0.29}]
chr15 GH15I089664 89664802 89666856 0.89 [{'connected_gene': 'PEX11A', 'score': 11.81}, {'connected_gene': 'WDR93', 'score': 11.81}, {'connected_gene': 'RPL36AP43', 'score': 11.81}, {'connected_gene': 'MESP1', 'score': 10.3}, {'connected_gene': 'TICRR', 'score': 7.98}, {'connected_gene': 'KIF7', 'score': 0.77}, {'connected_gene': 'PLIN1', 'score': 0.39}]
chr15 GH15I089698 89698676 89699045 0.22 [{'connected_gene': 'PEX11A', 'score': 8.71}, {'connected_gene': 'GC15P089694', 'score': 0.77}, {'connected_gene': 'WDR93', 'score': 0.44}, {'connected_gene': 'ENSG00000259561', 'score': 0.44}, {'connected_gene': 'GC15M089695', 'score': 0.37}]
chr15 GH15I089689 89689801 89691400 1.98 [{'connected_gene': 'WDR93', 'score': 566.63}, {'connected_gene': 'PEX11A', 'score': 558.31}, {'connected_gene': 'TICRR', 'score': 6.48}]
chr15 GH15I089728 89728174 89728730 0.2 [{'connected_gene': 'MESP1', 'score': 12.62}, {'connected_gene': 'PEX11A', 'score': 11.58}, {'connected_gene': 'WDR93', 'score': 11.58}, {'connected_gene': 'RPL36AP43', 'score': 11.57}, {'connected_gene': 'PLIN1', 'score': 10.64}, {'connected_gene': 'GC15M089695', 'score': 0.44}]
chr15 GH15I089780 89780514 89786366 1.71 [{'connected_gene': 'MESP1', 'score': 19.06}, {'connected_gene': 'ZNF710', 'score': 14.26}, {'connected_gene': 'ENSG00000259314', 'score': 13.65}, {'connected_gene': 'POLG', 'score': 9.94}, {'connected_gene': 'WDR93', 'score': 8.78}, {'connected_gene': 'MESP2', 'score': 6.45}, {'connected_gene': 'PEX11A', 'score': 6.43}, {'connected_gene': 'CIB1', 'score': 2.3}, {'connected_gene': 'ANPEP', 'score': 1.47}]
chr15 GH15I089749 89749858 89752452 2.18 [{'connected_gene': 'MESP1', 'score': 561.36}, {'connected_gene': 'MRPL15P1', 'score': 550.77}, {'connected_gene': 'POLG', 'score': 33.77}, {'connected_gene': 'LOC100631255', 'score': 27.5}, {'connected_gene': 'ENSG00000259314', 'score': 10.43}, {'connected_gene': 'WDR93', 'score': 10.3}, {'connected_gene': 'PEX11A', 'score': 6.76}, {'connected_gene': 'FANCI', 'score': 5.13}, {'connected_gene': 'GC15M089695', 'score': 0.29}]
chr15 GH15I089680 89679357 89679416 0.88 [{'connected_gene': 'PLIN1', 'score': 550.77}, {'connected_gene': 'PEX11A', 'score': 0.39}, {'connected_gene': 'KIF7', 'score': 0.37}]
chr15 GH15I089679 89679965 89681480 1.25 [{'connected_gene': 'PLIN1', 'score': 550.77}, {'connected_gene': 'GC15M089688', 'score': 0.44}, {'connected_gene': 'PEX11A', 'score': 0.39}]
chr15 GH15I089662 89662307 89664199 0.66 [{'connected_gene': 'KIF7', 'score': 550.77}, {'connected_gene': 'PEX11A', 'score': 11.79}, {'connected_gene': 'WDR93', 'score': 11.79}, {'connected_gene': 'RPL36AP43', 'score': 11.79}, {'connected_gene': 'MESP1', 'score': 10.3}, {'connected_gene': 'TICRR', 'score': 4.79}, {'connected_gene': 'ENSG00000228998', 'score': 4.61}, {'connected_gene': 'PLIN1', 'score': 0.37}]
chr15 GH15I090361 90361283 90365385 1.27 [{'connected_gene': 'GC15M090347', 'score': 550.77}, {'connected_gene': 'IQGAP1', 'score': 42.03}, {'connected_gene': 'GDPGP1', 'score': 15.16}, {'connected_gene': 'NGRN', 'score': 10.01}, {'connected_gene': 'CRTC3', 'score': 9.74}, {'connected_gene': 'ZNF774', 'score': 6.06}, {'connected_gene': 'CIB1', 'score': 4.88}, {'connected_gene': 'PEX11A', 'score': 4.62}, {'connected_gene': 'GC15P090381', 'score': 0.37}]
chr15 GH15I089693 89693730 89693859 0.77 [{'connected_gene': 'GC15P089694', 'score': 550.77}, {'connected_gene': 'PEX11A', 'score': 6.95}, {'connected_gene': 'WDR93', 'score': 0.77}]
chr15 GH15I089692 89692463 89692522 0.5 [{'connected_gene': 'GC15P089694', 'score': 550.77}, {'connected_gene': 'PEX11A', 'score': 550.77}, {'connected_gene': 'WDR93', 'score': 550.77}]