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
ENST00000245304 [[98086475, 98087038], [98116458, 98121382]] [[98086724, 98087038], [98116458, 98116696]]
ENST00000476869 [[98086724, 98087038], [98094021, 98094104], [98116458, 98116964]] [[98086724, 98087038], [98094021, 98094034]]
NM_021033 [[98086474, 98087038], [98116458, 98120252]] [[98086724, 98087038], [98116458, 98116696]]
Promoter
Chrom Start End Description
chr13 98085967 98085969 CAGE_peak_4_at_RAP2A_5end
chr13 98086408 98086433 CAGE_peak_2_at_RAP2A_5end
chr13 98086445 98086493 CAGE_peak_1_at_RAP2A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I097543 97543295 97544997 0.2 [{'connected_gene': 'RAP2A', 'score': 6.62}, {'connected_gene': 'LOC105370325', 'score': 0.77}, {'connected_gene': 'GC13P097561', 'score': 0.37}, {'connected_gene': 'LOC105370324', 'score': 0.1}]
chr13 GH13I097736 97736487 97736636 0.2 [{'connected_gene': 'RAP2A', 'score': 6.54}, {'connected_gene': 'LOC105370324', 'score': 0.31}, {'connected_gene': 'RPL7AP61', 'score': 0.1}]
chr13 GH13I097583 97583529 97585089 0.54 [{'connected_gene': 'RAP2A', 'score': 5.73}, {'connected_gene': 'PIR51420', 'score': 0.44}, {'connected_gene': 'GC13P097561', 'score': 0.34}, {'connected_gene': 'LOC105370324', 'score': 0.13}]
chr13 GH13I097368 97368801 97370054 0.89 [{'connected_gene': 'RAP2A', 'score': 12.07}, {'connected_gene': 'MBNL2', 'score': 5.24}, {'connected_gene': 'RNA5SP37', 'score': 0.44}, {'connected_gene': 'GC13M097364', 'score': 0.44}, {'connected_gene': 'GC13P097385', 'score': 0.37}]
chr13 GH13I097371 97371185 97373990 0.38 [{'connected_gene': 'RAP2A', 'score': 11.49}, {'connected_gene': 'MBNL2', 'score': 6.35}, {'connected_gene': 'RNA5SP37', 'score': 0.44}, {'connected_gene': 'GC13M097364', 'score': 0.44}, {'connected_gene': 'GC13P097385', 'score': 0.39}]
chr13 GH13I097366 97366346 97368385 0.97 [{'connected_gene': 'RAP2A', 'score': 12.07}, {'connected_gene': 'MBNL2', 'score': 5.82}, {'connected_gene': 'RNA5SP37', 'score': 0.77}, {'connected_gene': 'GC13M097364', 'score': 0.77}, {'connected_gene': 'GC13P097385', 'score': 0.37}]
chr13 GH13I097429 97429338 97430358 1.26 [{'connected_gene': 'RAP2A', 'score': 4.29}, {'connected_gene': 'MBNL2', 'score': 1.31}, {'connected_gene': 'PIR62272', 'score': 0.77}, {'connected_gene': 'GC13M097429', 'score': 0.77}]
chr13 GH13I097448 97448507 97449169 0.43 [{'connected_gene': 'RAP2A', 'score': 0.39}, {'connected_gene': 'ENSG00000276704', 'score': 0.39}, {'connected_gene': 'PIR43060', 'score': 0.37}]
chr13 GH13I097430 97430546 97436401 2.24 [{'connected_gene': 'RAP2A', 'score': 561.36}, {'connected_gene': 'GC13M097429', 'score': 550.77}, {'connected_gene': 'ENSG00000276573', 'score': 0.77}, {'connected_gene': 'PIR62272', 'score': 0.44}]
chr13 GH13I096993 96993850 96994774 1.24 [{'connected_gene': 'OXGR1', 'score': 567.5}, {'connected_gene': 'GC13P096994', 'score': 550.77}, {'connected_gene': 'RAP2A', 'score': 5.42}, {'connected_gene': 'TULP3P1', 'score': 0.39}, {'connected_gene': 'LINC00359', 'score': 0.39}]
chr13 GH13I097026 97026541 97027533 0.31 [{'connected_gene': 'OXGR1', 'score': 11.57}, {'connected_gene': 'RAP2A', 'score': 7.63}, {'connected_gene': 'GC13P097018', 'score': 0.44}, {'connected_gene': 'GC13M097074', 'score': 0.21}]
chr13 GH13I097019 97019939 97022150 0.31 [{'connected_gene': 'OXGR1', 'score': 25.5}, {'connected_gene': 'RAP2A', 'score': 7.63}, {'connected_gene': 'GC13P097018', 'score': 0.77}, {'connected_gene': 'GC13M097074', 'score': 0.2}]
chr13 GH13I097218 97218962 97221316 1.18 [{'connected_gene': 'MBNL2', 'score': 5.19}, {'connected_gene': 'OXGR1', 'score': 4.7}, {'connected_gene': 'RAP2A', 'score': 1.57}, {'connected_gene': 'GC13P097244', 'score': 0.37}, {'connected_gene': 'PIR38499', 'score': 0.37}, {'connected_gene': 'LINC00456', 'score': 0.26}]
chr13 GH13I097459 97459607 97461389 0.92 [{'connected_gene': 'PIR43060', 'score': 0.44}, {'connected_gene': 'ENSG00000276704', 'score': 0.34}, {'connected_gene': 'RAP2A', 'score': 0.31}]