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
ENST00000358157 [[91606361, 91606610], [91615968, 91619925]] [[91616115, 91617252]]
ENST00000375846 [[91611420, 91619925]] [[91616115, 91617252]]
NM_005226 [[91606323, 91606610], [91615968, 91620070]] [[91616115, 91617252]]
Promoter
Chrom Start End Description
chr9 91606355 91606398 CAGE_peak_1_at_S1PR3_5end
chr9 91616472 91616491 CAGE_peak_3_at_S1PR3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I088948 88948918 88951979 1.42 [{'connected_gene': 'C9orf47', 'score': 5.51}, {'connected_gene': 'S1PR3', 'score': 4.68}, {'connected_gene': 'PCNPP2', 'score': 0.34}, {'connected_gene': 'PIR55815', 'score': 0.25}]
chr9 GH09I088923 88923095 88924630 1.17 [{'connected_gene': 'S1PR3', 'score': 2.91}, {'connected_gene': 'C9orf47', 'score': 2.31}, {'connected_gene': 'SECISBP2', 'score': 1.29}, {'connected_gene': 'PIR55815', 'score': 0.37}, {'connected_gene': 'PCNPP2', 'score': 0.25}]
chr9 GH09I088926 88926961 88927963 1.21 [{'connected_gene': 'S1PR3', 'score': 2.5}, {'connected_gene': 'C9orf47', 'score': 1.9}, {'connected_gene': 'SECISBP2', 'score': 1.28}, {'connected_gene': 'PIR55815', 'score': 0.34}, {'connected_gene': 'PCNPP2', 'score': 0.26}]
chr9 GH09I088925 88925537 88925915 0.46 [{'connected_gene': 'S1PR3', 'score': 2.28}, {'connected_gene': 'C9orf47', 'score': 1.51}, {'connected_gene': 'PIR55815', 'score': 0.34}, {'connected_gene': 'PCNPP2', 'score': 0.25}]
chr9 GH09I088935 88935205 88937676 0.79 [{'connected_gene': 'S1PR3', 'score': 2.66}, {'connected_gene': 'C9orf47', 'score': 1.92}, {'connected_gene': 'PIR55815', 'score': 0.29}, {'connected_gene': 'PCNPP2', 'score': 0.29}]
chr9 GH09I088941 88941197 88943398 0.7 [{'connected_gene': 'S1PR3', 'score': 6.22}, {'connected_gene': 'C9orf47', 'score': 5.29}, {'connected_gene': 'PCNPP2', 'score': 0.31}, {'connected_gene': 'PIR55815', 'score': 0.28}]
chr9 GH09I088988 88988826 88992601 1.89 [{'connected_gene': 'S1PR3', 'score': 555.19}, {'connected_gene': 'C9orf47', 'score': 550.77}, {'connected_gene': 'ENSG00000228658', 'score': 0.37}]
chr9 GH09I088993 88993775 88995607 0.31 [{'connected_gene': 'S1PR3', 'score': 0.77}, {'connected_gene': 'C9orf47', 'score': 0.77}, {'connected_gene': 'GC09M089006', 'score': 0.37}]
chr9 GH09I088952 88952906 88954526 0.83 [{'connected_gene': 'S1PR3', 'score': 6.2}, {'connected_gene': 'PCNPP2', 'score': 0.37}, {'connected_gene': 'PIR55815', 'score': 0.25}]
chr9 GH09I088998 88998430 88999675 0.72 [{'connected_gene': 'S1PR3', 'score': 0.44}, {'connected_gene': 'GC09M089006', 'score': 0.39}]
chr9 GH09I089000 89000212 89001715 0.92 [{'connected_gene': 'S1PR3', 'score': 0.44}, {'connected_gene': 'GC09M089006', 'score': 0.44}]
chr9 GH09I089417 89417490 89430409 1.6 [{'connected_gene': 'SEMA4D', 'score': 24.03}, {'connected_gene': 'CKS2', 'score': 6.08}, {'connected_gene': 'SECISBP2', 'score': 4.48}, {'connected_gene': 'S1PR3', 'score': 1.5}, {'connected_gene': 'C9orf47', 'score': 1.3}, {'connected_gene': 'PA2G4P6', 'score': 0.31}, {'connected_gene': 'PIR43063', 'score': 0.2}]
chr9 GH09I088744 88744593 88749938 1.32 [{'connected_gene': 'MIR4289', 'score': 550.77}, {'connected_gene': 'S1PR3', 'score': 4.77}, {'connected_gene': 'GC09M088841', 'score': 0.16}]