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
ENST00000378688 [[47405684, 47409774], [47466524, 47466725], [47469629, 47470173]] [[47408971, 47409774], [47466524, 47466725], [47469629, 47470041]]
ENST00000542664 [[47407512, 47409774], [47466524, 47466725], [47469629, 47470369], [47470808, 47471169]] [[47408971, 47409774], [47466524, 47466725], [47469629, 47470041]]
ENST00000543956 [[47407512, 47409774], [47466524, 47466725], [47470808, 47471169]] [[47408971, 47409774], [47466524, 47466725], [47470808, 47470968]]
NM_000621 [[47405676, 47409774], [47466524, 47466725], [47469629, 47470369], [47470808, 47471211]] [[47408971, 47409774], [47466524, 47466725], [47469629, 47470041]]
NM_001165947 [[47405676, 47409774], [47466524, 47466725], [47470808, 47471211]] [[47408971, 47409774], [47466524, 47466725], [47470808, 47470968]]
Promoter
Chrom Start End Description
chr13 47470920 47470948 CAGE_peak_4_at_HTR2A_5end
chr13 47470960 47470980 CAGE_peak_7_at_HTR2A_5end
chr13 47470984 47471003 CAGE_peak_3_at_HTR2A_5end
chr13 47471006 47471041 CAGE_peak_2_at_HTR2A_5end
chr13 47471045 47471055 CAGE_peak_10_at_HTR2A_5end
chr13 47471078 47471089 CAGE_peak_9_at_HTR2A_5end
chr13 47471104 47471126 CAGE_peak_6_at_HTR2A_5end
chr13 47471139 47471152 CAGE_peak_5_at_HTR2A_5end
chr13 47471155 47471214 CAGE_peak_1_at_HTR2A_5end
chr13 47471216 47471226 CAGE_peak_8_at_HTR2A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I047437 47437546 47437675 0.31 [{'connected_gene': 'HTR2A', 'score': 10.4}, {'connected_gene': 'PIR47169', 'score': 0.44}, {'connected_gene': 'RN7SL700P', 'score': 0.34}]
chr13 GH13I047497 47497747 47500957 1.13 [{'connected_gene': 'HTR2A', 'score': 7.17}, {'connected_gene': 'GC13P047505', 'score': 0.44}, {'connected_gene': 'RN7SL700P', 'score': 0.26}]
chr13 GH13I047484 47484445 47485099 0.46 [{'connected_gene': 'HTR2A', 'score': 6.73}, {'connected_gene': 'GC13P047505', 'score': 0.34}, {'connected_gene': 'RN7SL700P', 'score': 0.31}]
chr13 GH13I046961 46961800 46962001 0.83 [{'connected_gene': 'HTR2A', 'score': 11.59}, {'connected_gene': 'GC13M046913', 'score': 0.25}, {'connected_gene': 'LOC105370195', 'score': 0.06}]
chr13 GH13I046982 46982878 46984648 1.01 [{'connected_gene': 'HTR2A', 'score': 10.45}, {'connected_gene': 'GC13M046913', 'score': 0.2}, {'connected_gene': 'LOC105370195', 'score': 0.06}]
chr13 GH13I046962 46962201 46962687 0.43 [{'connected_gene': 'HTR2A', 'score': 11.58}, {'connected_gene': 'GC13M046913', 'score': 0.25}, {'connected_gene': 'LOC105370195', 'score': 0.06}]
chr13 GH13I046946 46946754 46948542 0.31 [{'connected_gene': 'HTR2A', 'score': 10.58}, {'connected_gene': 'GC13M046913', 'score': 0.29}, {'connected_gene': 'LOC105370195', 'score': 0.06}]
chr13 GH13I046865 46865433 46867081 0.76 [{'connected_gene': 'HTR2A', 'score': 10.93}, {'connected_gene': 'HTR2A-AS1', 'score': 0.39}, {'connected_gene': 'GC13M046892', 'score': 0.31}]
chr13 GH13I046866 46865226 46865355 0.2 [{'connected_gene': 'HTR2A', 'score': 16.51}, {'connected_gene': 'HTR2A-AS1', 'score': 0.39}, {'connected_gene': 'GC13M046892', 'score': 0.31}]
chr13 GH13I047775 47774226 47774375 0.66 [{'connected_gene': 'HTR2A', 'score': 10.65}, {'connected_gene': 'RPL27AP8', 'score': 0.44}, {'connected_gene': 'ENSG00000228573', 'score': 0.21}]
chr13 GH13I046896 46896600 46897201 1.11 [{'connected_gene': 'HTR2A', 'score': 550.77}, {'connected_gene': 'GC13M046896', 'score': 550.77}, {'connected_gene': 'GC13M046895', 'score': 550.77}]
chr13 GH13I047332 47332226 47332375 0.2 [{'connected_gene': 'HTR2A', 'score': 8.7}, {'connected_gene': 'GC13P047320', 'score': 0.39}, {'connected_gene': 'GC13P047412', 'score': 0.18}]
chr13 GH13I047774 47774000 47774201 0.89 [{'connected_gene': 'MED4', 'score': 14.42}, {'connected_gene': 'HTR2A', 'score': 10.65}, {'connected_gene': 'LINC00562', 'score': 10.14}, {'connected_gene': 'RPL27AP8', 'score': 0.44}, {'connected_gene': 'ENSG00000228573', 'score': 0.21}]
chr13 GH13I046795 46795965 46798510 2.04 [{'connected_gene': 'ESD', 'score': 557.36}, {'connected_gene': 'HTR2A', 'score': 6.19}, {'connected_gene': 'GC13P046789', 'score': 0.44}]
chr13 GH13I046759 46759966 46760115 0.62 [{'connected_gene': 'ESD', 'score': 11.1}, {'connected_gene': 'LRCH1', 'score': 10.17}, {'connected_gene': 'HTR2A', 'score': 9.17}, {'connected_gene': 'GC13P046789', 'score': 0.31}, {'connected_gene': 'ENSG00000278462', 'score': 0.26}]
chr13 GH13I046757 46757086 46757235 0.49 [{'connected_gene': 'ESD', 'score': 11.08}, {'connected_gene': 'LRCH1', 'score': 10.17}, {'connected_gene': 'HTR2A', 'score': 9.17}, {'connected_gene': 'GC13P046789', 'score': 0.29}, {'connected_gene': 'ENSG00000278462', 'score': 0.28}]
chr13 GH13I046893 46893601 46894885 0.91 [{'connected_gene': 'GC13M046896', 'score': 550.77}, {'connected_gene': 'GC13M046894', 'score': 550.77}, {'connected_gene': 'GC13M046893', 'score': 550.77}, {'connected_gene': 'GC13M046895', 'score': 550.77}, {'connected_gene': 'GC13P046892', 'score': 550.77}, {'connected_gene': 'GC13M046892', 'score': 550.77}, {'connected_gene': 'HTR2A', 'score': 6.97}]