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
ENST00000302945 [[28366779, 28367239], [28367702, 28368905]] [[28366827, 28367239], [28367702, 28368085]]
NM_145657 [[28366779, 28367239], [28367702, 28368089]] [[28366827, 28367239], [28367702, 28368085]]
Promoter
Chrom Start End Description
chr13 28366616 28366622 CAGE_peak_1_at_GSX1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I027359 27359304 27359453 0.63 [{'connected_gene': 'RASL11A', 'score': 10.73}, {'connected_gene': 'GSX1', 'score': 10.67}, {'connected_gene': 'SNORA27', 'score': 10.19}, {'connected_gene': 'SNORD102', 'score': 10.19}, {'connected_gene': 'RPL21', 'score': 10.19}, {'connected_gene': 'LINC01079', 'score': 0.39}, {'connected_gene': 'RNU6-70P', 'score': 0.37}]
chr13 GH13I027361 27361801 27362879 1.02 [{'connected_gene': 'RASL11A', 'score': 16.38}, {'connected_gene': 'GSX1', 'score': 10.67}, {'connected_gene': 'SNORA27', 'score': 10.19}, {'connected_gene': 'SNORD102', 'score': 10.19}, {'connected_gene': 'RPL21', 'score': 10.18}, {'connected_gene': 'LINC01079', 'score': 0.39}, {'connected_gene': 'RNU6-70P', 'score': 0.37}]
chr13 GH13I027808 27808547 27810022 0.43 [{'connected_gene': 'RASL11A', 'score': 9.98}, {'connected_gene': 'RNU6-63P', 'score': 9.82}, {'connected_gene': 'GSX1', 'score': 0.37}, {'connected_gene': 'GC13P027834', 'score': 0.37}]
chr13 GH13I027813 27813099 27813378 0.22 [{'connected_gene': 'RASL11A', 'score': 9.98}, {'connected_gene': 'RNU6-63P', 'score': 9.82}, {'connected_gene': 'GC13P027834', 'score': 0.37}, {'connected_gene': 'GSX1', 'score': 0.34}]
chr13 GH13I027340 27340705 27341024 0.24 [{'connected_gene': 'GSX1', 'score': 4.92}, {'connected_gene': 'RNU6-70P', 'score': 0.77}, {'connected_gene': 'GC13P027309', 'score': 0.29}]
chr13 GH13I027728 27728444 27728771 0.71 [{'connected_gene': 'GSX1', 'score': 11.06}, {'connected_gene': 'LOC105370129', 'score': 0.39}, {'connected_gene': 'NPM1P4', 'score': 0.29}, {'connected_gene': 'POLR1D', 'score': 0.14}]
chr13 GH13I027744 27744442 27745997 1.18 [{'connected_gene': 'GSX1', 'score': 11.67}, {'connected_gene': 'GC13P027748', 'score': 0.77}, {'connected_gene': 'LOC105370129', 'score': 0.44}]
chr13 GH13I027821 27821243 27823399 1.29 [{'connected_gene': 'GSX1', 'score': 12.88}, {'connected_gene': 'CDX2', 'score': 11.34}, {'connected_gene': 'RNU6-63P', 'score': 10.18}, {'connected_gene': 'GC13P027834', 'score': 0.44}, {'connected_gene': 'PLUT', 'score': 0.15}]
chr13 GH13I027820 27820708 27820733 0.31 [{'connected_gene': 'GSX1', 'score': 12.88}, {'connected_gene': 'CDX2', 'score': 11.33}, {'connected_gene': 'RNU6-63P', 'score': 10.18}, {'connected_gene': 'GC13P027834', 'score': 0.44}, {'connected_gene': 'PLUT', 'score': 0.15}]
chr13 GH13I027822 27821024 27821173 0.38 [{'connected_gene': 'GSX1', 'score': 12.88}, {'connected_gene': 'CDX2', 'score': 11.33}, {'connected_gene': 'RNU6-63P', 'score': 10.18}, {'connected_gene': 'GC13P027834', 'score': 0.44}, {'connected_gene': 'PLUT', 'score': 0.15}]
chr13 GH13I027853 27853424 27853593 0.2 [{'connected_gene': 'GSX1', 'score': 11.48}, {'connected_gene': 'CDX2', 'score': 11.16}, {'connected_gene': 'PLUT', 'score': 11.04}, {'connected_gene': 'PDX1', 'score': 11.04}, {'connected_gene': 'RNU6-73P', 'score': 0.34}, {'connected_gene': 'LOC105370130', 'score': 0.25}]
chr13 GH13I027850 27850665 27853156 0.56 [{'connected_gene': 'GSX1', 'score': 11.5}, {'connected_gene': 'CDX2', 'score': 11.16}, {'connected_gene': 'PLUT', 'score': 11.04}, {'connected_gene': 'PDX1', 'score': 11.04}, {'connected_gene': 'USP12-AS2', 'score': 4.32}, {'connected_gene': 'RNU6-73P', 'score': 0.34}, {'connected_gene': 'LOC105370130', 'score': 0.25}]
chr13 GH13I027806 27806844 27807033 0.43 [{'connected_gene': 'GSX1', 'score': 0.39}, {'connected_gene': 'GC13P027834', 'score': 0.34}]
chr13 GH13I027797 27797284 27797433 0.52 [{'connected_gene': 'GSX1', 'score': 0.77}, {'connected_gene': 'GC13P027834', 'score': 0.29}]
chr13 GH13I027790 27790177 27790440 0.58 [{'connected_gene': 'GSX1', 'score': 0.77}, {'connected_gene': 'GC13P027748', 'score': 0.26}]
chr13 GH13I027792 27792444 27792473 0.78 [{'connected_gene': 'GSX1', 'score': 550.77}, {'connected_gene': 'GC13P027748', 'score': 0.26}]
chr13 GH13I027793 27792664 27792723 1.04 [{'connected_gene': 'GSX1', 'score': 550.77}, {'connected_gene': 'GC13P027834', 'score': 0.28}]
chr13 GH13I027958 27958858 27982215 2 [{'connected_gene': 'CDX2', 'score': 557.17}, {'connected_gene': 'URAD', 'score': 22.79}, {'connected_gene': 'RPL21', 'score': 12.76}, {'connected_gene': 'PLUT', 'score': 12.55}, {'connected_gene': 'PDX1', 'score': 12.54}, {'connected_gene': 'GSX1', 'score': 10.83}, {'connected_gene': 'RN7SL272P', 'score': 10.79}, {'connected_gene': 'LNX2', 'score': 1.62}, {'connected_gene': 'FLT3', 'score': 1.36}, {'connected_gene': 'GC13M027960', 'score': 0.44}, {'connected_gene': 'LOC105370132', 'score': 0.44}]
chr13 GH13I027924 27924224 27924373 0.58 [{'connected_gene': 'CDX2', 'score': 12.47}, {'connected_gene': 'GSX1', 'score': 11.14}, {'connected_gene': 'PLUT', 'score': 0.77}, {'connected_gene': 'PDX1', 'score': 0.77}, {'connected_gene': 'ATP5F1EP2', 'score': 0.34}]
chr13 GH13I027929 27928976 27929393 0.38 [{'connected_gene': 'CDX2', 'score': 12.48}, {'connected_gene': 'GSX1', 'score': 11.14}, {'connected_gene': 'PLUT', 'score': 0.44}, {'connected_gene': 'ATP5F1EP2', 'score': 0.37}]
chr13 GH13I027927 27927145 27927443 0.43 [{'connected_gene': 'CDX2', 'score': 12.48}, {'connected_gene': 'GSX1', 'score': 11.14}, {'connected_gene': 'PLUT', 'score': 0.44}, {'connected_gene': 'ATP5F1EP2', 'score': 0.37}]
chr13 GH13I027926 27926618 27927136 0.43 [{'connected_gene': 'CDX2', 'score': 12.48}, {'connected_gene': 'GSX1', 'score': 11.14}, {'connected_gene': 'PLUT', 'score': 0.44}, {'connected_gene': 'ATP5F1EP2', 'score': 0.37}]
chr13 GH13I027928 27928204 27928233 0.58 [{'connected_gene': 'CDX2', 'score': 12.48}, {'connected_gene': 'GSX1', 'score': 11.14}, {'connected_gene': 'PLUT', 'score': 0.44}, {'connected_gene': 'ATP5F1EP2', 'score': 0.37}]
chr13 GH13I027984 27984344 27984533 0.86 [{'connected_gene': 'PLUT', 'score': 12.39}, {'connected_gene': 'PDX1', 'score': 12.39}, {'connected_gene': 'GSX1', 'score': 10.71}, {'connected_gene': 'URAD', 'score': 0.77}, {'connected_gene': 'LOC105370132', 'score': 0.77}]
chr13 GH13I027868 27868764 27868933 0.38 [{'connected_gene': 'PLUT', 'score': 11.46}, {'connected_gene': 'PDX1', 'score': 11.46}, {'connected_gene': 'GSX1', 'score': 10.76}, {'connected_gene': 'RNU6-63P', 'score': 9.74}, {'connected_gene': 'LOC105370130', 'score': 0.29}, {'connected_gene': 'RNU6-73P', 'score': 0.26}]
chr13 GH13I027776 27776064 27776193 0.38 [{'connected_gene': 'PLUT', 'score': 10.59}, {'connected_gene': 'PDX1', 'score': 10.59}, {'connected_gene': 'RNU6-63P', 'score': 10.41}, {'connected_gene': 'GSX1', 'score': 0.37}, {'connected_gene': 'GC13P027748', 'score': 0.31}]
chr13 GH13I027952 27952463 27958474 1.78 [{'connected_gene': 'LINC00543', 'score': 550.77}, {'connected_gene': 'CDX2', 'score': 38.07}, {'connected_gene': 'PLUT', 'score': 12.6}, {'connected_gene': 'PDX1', 'score': 12.58}, {'connected_gene': 'GSX1', 'score': 10.74}, {'connected_gene': 'URAD', 'score': 8.01}, {'connected_gene': 'GC13M027960', 'score': 0.44}]
chr13 GH13I027829 27829801 27830425 1 [{'connected_gene': 'GC13P027834', 'score': 550.77}, {'connected_gene': 'RNU6-73P', 'score': 550.77}, {'connected_gene': 'GSX1', 'score': 11.82}, {'connected_gene': 'LOC105370130', 'score': 0.19}, {'connected_gene': 'PLUT', 'score': 0.16}]
chr13 GH13I027826 27826059 27827491 1.08 [{'connected_gene': 'GC13P027834', 'score': 550.77}, {'connected_gene': 'RNU6-73P', 'score': 550.77}, {'connected_gene': 'GSX1', 'score': 0.29}, {'connected_gene': 'PLUT', 'score': 0.16}]