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
ENST00000328848 [[34633916, 34634309], [34635220, 34635378]] [[34634168, 34634309], [34635220, 34635274]]
ENST00000557912 [[34633919, 34634251], [34635220, 34635324]] [[34634194, 34634251], [34635220, 34635274]]
NM_018648 [[34633916, 34634309], [34635220, 34635362]] [[34634168, 34634309], [34635220, 34635274]]
Promoter
Chrom Start End Description
chr15 34635297 34635308 CAGE_peak_2_at_NOP10_5end
chr15 34635314 34635368 CAGE_peak_1_at_NOP10_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I034317 34316852 34320744 2.15 [{'connected_gene': 'SLC12A6', 'score': 568.43}, {'connected_gene': 'NOP10', 'score': 60.71}, {'connected_gene': 'GOLGA8A', 'score': 13.04}, {'connected_gene': 'AQR', 'score': 12.82}, {'connected_gene': 'ENSG00000259287', 'score': 11.81}, {'connected_gene': 'LOC101929988', 'score': 10.85}, {'connected_gene': 'EMC4', 'score': 8.82}, {'connected_gene': 'ENSG00000207091', 'score': 0.77}]
chr15 GH15I034331 34331189 34339290 2.73 [{'connected_gene': 'SLC12A6', 'score': 556.43}, {'connected_gene': 'NOP10', 'score': 66.24}, {'connected_gene': 'GOLGA8A', 'score': 13.06}, {'connected_gene': 'AQR', 'score': 12.82}, {'connected_gene': 'ENSG00000259287', 'score': 11.81}, {'connected_gene': 'LOC101929988', 'score': 10.85}, {'connected_gene': 'PRELID1P4', 'score': 9.88}, {'connected_gene': 'ENSG00000207091', 'score': 0.34}]
chr15 GH15I034208 34208534 34210729 2.01 [{'connected_gene': 'KATNBL1', 'score': 557.17}, {'connected_gene': 'NOP10', 'score': 15.59}, {'connected_gene': 'PIR44117', 'score': 0.15}]
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 GH15I034332 34331085 34331147 0.51 [{'connected_gene': 'NOP10', 'score': 17.94}, {'connected_gene': 'SLC12A6', 'score': 0.44}, {'connected_gene': 'ENSG00000207091', 'score': 0.37}]
chr15 GH15I034327 34327307 34329953 0.97 [{'connected_gene': 'NOP10', 'score': 62.22}, {'connected_gene': 'SLC12A6', 'score': 0.44}, {'connected_gene': 'ENSG00000207091', 'score': 0.39}]
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 GH15I034182 34182478 34183993 0.6 [{'connected_gene': 'NOP10', 'score': 17.71}, {'connected_gene': 'KATNBL1', 'score': 17.47}, {'connected_gene': 'AVEN', 'score': 10.79}, {'connected_gene': 'PIR44117', 'score': 0.18}]
chr15 GH15I034217 34217538 34218329 0.65 [{'connected_gene': 'NOP10', 'score': 12.84}, {'connected_gene': 'KATNBL1', 'score': 7.57}, {'connected_gene': 'EMC4', 'score': 0.44}]
chr15 GH15I034213 34213720 34215072 0.43 [{'connected_gene': 'NOP10', 'score': 32.47}, {'connected_gene': 'KATNBL1', 'score': 7.63}, {'connected_gene': 'EMC4', 'score': 0.39}]
chr15 GH15I034154 34154313 34155882 0.74 [{'connected_gene': 'NOP10', 'score': 20.94}, {'connected_gene': 'KATNBL1', 'score': 6.07}, {'connected_gene': 'PIR44117', 'score': 0.25}]
chr15 GH15I034161 34161417 34162423 0.59 [{'connected_gene': 'NOP10', 'score': 11.68}, {'connected_gene': 'KATNBL1', 'score': 11.46}, {'connected_gene': 'PIR44117', 'score': 0.22}]
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 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 GH15I034121 34121501 34125898 0.87 [{'connected_gene': 'PGBD4', 'score': 12.37}, {'connected_gene': 'EMC7', 'score': 12.37}, {'connected_gene': 'KATNBL1', 'score': 11.64}, {'connected_gene': 'NOP10', 'score': 5.34}, {'connected_gene': 'SLC12A6', 'score': 4.87}, {'connected_gene': 'GOLGA8B', 'score': 4.83}, {'connected_gene': 'PIR44117', 'score': 0.37}]
chr15 GH15I034316 34316401 34316600 0.58 [{'connected_gene': 'GC15P034315', 'score': 550.77}, {'connected_gene': 'ENSG00000207091', 'score': 550.77}, {'connected_gene': 'NOP10', 'score': 5.89}, {'connected_gene': 'SLC12A6', 'score': 0.34}]