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
ENST00000537011 [[34635515, 34635903], [34638142, 34638236], [34640169, 34640878], [34642904, 34643033], [34645936, 34646073], [34646646, 34646933], [34647221, 34647338], [34647688, 34649929]] [[34635897, 34635903], [34638142, 34638236], [34640169, 34640878], [34642904, 34643033], [34645936, 34646073], [34646646, 34646933], [34647221, 34647338], [34647688, 34649692]]
ENST00000438749 [[34635610, 34635903], [34640169, 34640878], [34642904, 34643033], [34645936, 34646073], [34646646, 34646933], [34647221, 34647338], [34647688, 34649938]] [[34635833, 34635903], [34640169, 34640878], [34642904, 34643033], [34645936, 34646073], [34646646, 34646933], [34647221, 34647338], [34647688, 34649692]]
ENST00000333756 [[34638065, 34638236], [34640169, 34640878], [34642904, 34643033], [34645936, 34646073], [34646646, 34646933], [34647221, 34647338], [34647688, 34649933]] [[34638220, 34638236], [34640169, 34640878], [34642904, 34643033], [34645936, 34646073], [34646646, 34646933], [34647221, 34647338], [34647688, 34649692]]
NM_001284293 [[34635515, 34635903], [34640169, 34640878], [34642904, 34643033], [34645936, 34646073], [34646646, 34646933], [34647221, 34647338], [34647688, 34649938]] [[34635833, 34635903], [34640169, 34640878], [34642904, 34643033], [34645936, 34646073], [34646646, 34646933], [34647221, 34647338], [34647688, 34649692]]
NM_001284292 [[34635515, 34635903], [34638142, 34638236], [34640169, 34640878], [34642904, 34643033], [34645936, 34646073], [34646646, 34646933], [34647221, 34647338], [34647688, 34649938]] [[34635897, 34635903], [34638142, 34638236], [34640169, 34640878], [34642904, 34643033], [34645936, 34646073], [34646646, 34646933], [34647221, 34647338], [34647688, 34649692]]
NM_175741 [[34635515, 34635903], [34638057, 34638236], [34640169, 34640878], [34642904, 34643033], [34645936, 34646073], [34646646, 34646933], [34647221, 34647338], [34647688, 34649938]] [[34638220, 34638236], [34640169, 34640878], [34642904, 34643033], [34645936, 34646073], [34646646, 34646933], [34647221, 34647338], [34647688, 34649692]]
Promoter
Chrom Start End Description
chr15 34638088 34638129 CAGE_peak_2_at_C15orf55_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I034968 34968526 34970409 2.08 [{'connected_gene': 'AQR', 'score': 576.8}, {'connected_gene': 'GOLGA8A', 'score': 17.34}, {'connected_gene': 'HNRNPLP2', 'score': 14.79}, {'connected_gene': 'GOLGA8B', 'score': 13.65}, {'connected_gene': 'NUTM1', 'score': 12.73}, {'connected_gene': 'ENSG00000259665', 'score': 9.81}, {'connected_gene': 'ENSG00000259336', 'score': 9.73}, {'connected_gene': 'ZNF770', 'score': 7.65}, {'connected_gene': 'GC15P034944', 'score': 0.31}]
chr15 GH15I034303 34303082 34307325 0.54 [{'connected_gene': 'NOP10', 'score': 30.71}, {'connected_gene': 'SLC12A6', 'score': 30.2}, {'connected_gene': 'NUTM1', 'score': 11.88}, {'connected_gene': 'KATNBL1', 'score': 10.7}, {'connected_gene': 'EMC4', 'score': 10.64}, {'connected_gene': 'GC15P034315', 'score': 0.44}, {'connected_gene': 'ENSG00000259468', 'score': 0.25}]
chr15 GH15I034246 34246018 34247411 0.38 [{'connected_gene': 'NOP10', 'score': 51.16}, {'connected_gene': 'SLC12A6', 'score': 11.89}, {'connected_gene': 'NUTM1', 'score': 11.88}, {'connected_gene': 'LPCAT4', 'score': 11.67}, {'connected_gene': 'KATNBL1', 'score': 11.64}, {'connected_gene': 'GOLGA8B', 'score': 4.39}, {'connected_gene': 'ENSG00000259468', 'score': 0.44}, {'connected_gene': 'EMC4', 'score': 0.34}]
chr15 GH15I034238 34238054 34242346 0.89 [{'connected_gene': 'NOP10', 'score': 37.71}, {'connected_gene': 'KATNBL1', 'score': 11.66}, {'connected_gene': 'SLC12A6', 'score': 11.5}, {'connected_gene': 'NUTM1', 'score': 11.5}, {'connected_gene': 'EMC4', 'score': 0.37}, {'connected_gene': 'ENSG00000259468', 'score': 0.37}]
chr15 GH15I034341 34341500 34343809 2.29 [{'connected_gene': 'NOP10', 'score': 632.36}, {'connected_gene': 'NUTM1', 'score': 550.77}, {'connected_gene': 'SLC12A6', 'score': 0.77}]
chr15 GH15I034984 34984590 34989582 2.08 [{'connected_gene': 'ZNF770', 'score': 558.77}, {'connected_gene': 'AQR', 'score': 44.93}, {'connected_gene': 'HNRNPLP2', 'score': 33.38}, {'connected_gene': 'NUTM1', 'score': 10.33}, {'connected_gene': 'ENSG00000279364', 'score': 0.44}]
chr15 GH15I034223 34223673 34226135 2.08 [{'connected_gene': 'EMC4', 'score': 550.77}, {'connected_gene': 'NOP10', 'score': 46.59}, {'connected_gene': 'AQR', 'score': 29.31}, {'connected_gene': 'HNRNPLP2', 'score': 24.12}, {'connected_gene': 'NUTM1', 'score': 21.32}, {'connected_gene': 'SLC12A6', 'score': 11.03}, {'connected_gene': 'KATNBL1', 'score': 4.81}]
chr15 GH15I034346 34346878 34347277 0.23 [{'connected_gene': 'NUTM1', 'score': 0.77}, {'connected_gene': 'LPCAT4', 'score': 0.34}]
chr15 GH15I033984 33984753 33986132 0.84 [{'connected_gene': 'NUTM1', 'score': 21.61}, {'connected_gene': 'CHRM5', 'score': 12.73}, {'connected_gene': 'AVEN', 'score': 11.28}, {'connected_gene': 'ENSG00000259505', 'score': 0.44}, {'connected_gene': 'ENSG00000278472', 'score': 0.39}]
chr15 GH15I034364 34364857 34368885 2.02 [{'connected_gene': 'LPCAT4', 'score': 550.77}, {'connected_gene': 'AQR', 'score': 18.15}, {'connected_gene': 'HNRNPLP2', 'score': 12.55}, {'connected_gene': 'ENSG00000259287', 'score': 11.58}, {'connected_gene': 'GOLGA8B', 'score': 6.7}, {'connected_gene': 'GOLGA8A', 'score': 6.24}, {'connected_gene': 'NUTM1', 'score': 0.34}]
chr15 GH15I034359 34359500 34359689 0.2 [{'connected_gene': 'LPCAT4', 'score': 0.44}, {'connected_gene': 'NUTM1', 'score': 0.37}]
chr15 GH15I034361 34361982 34363807 0.31 [{'connected_gene': 'LPCAT4', 'score': 10.98}, {'connected_gene': 'NUTM1', 'score': 0.37}]
chr15 GH15I034360 34360420 34360609 0.67 [{'connected_gene': 'LPCAT4', 'score': 0.44}, {'connected_gene': 'NUTM1', 'score': 0.37}]
chr15 GH15I034513 34513601 34515800 1.22 [{'connected_gene': 'LOC105370761', 'score': 550.77}, {'connected_gene': 'AQR', 'score': 65.22}, {'connected_gene': 'HNRNPLP2', 'score': 60.18}, {'connected_gene': 'GOLGA8A', 'score': 55.26}, {'connected_gene': 'ENSG00000259287', 'score': 53.56}, {'connected_gene': 'LOC101929988', 'score': 50.63}, {'connected_gene': 'NUTM1', 'score': 38.34}, {'connected_gene': 'FSCN1P1', 'score': 13.83}, {'connected_gene': 'ENSG00000259336', 'score': 11.56}, {'connected_gene': 'GOLGA8B', 'score': 10.8}, {'connected_gene': 'PGBD4', 'score': 10.31}, {'connected_gene': 'PRELID1P4', 'score': 9.94}, {'connected_gene': 'PIR46630', 'score': 0.77}]
chr15 GH15I033971 33971853 33972161 0.59 [{'connected_gene': 'ENSG00000278472', 'score': 550.77}, {'connected_gene': 'CHRM5', 'score': 6.51}, {'connected_gene': 'NUTM1', 'score': 2.54}, {'connected_gene': 'AVEN', 'score': 0.15}]