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
ENST00000251810 [[103216729, 103220513], [103225003, 103225117], [103226281, 103226386], [103231041, 103231175], [103236273, 103236368], [103237112, 103237246], [103238145, 103238262], [103244376, 103244532], [103251054, 103251346]] [[103220360, 103220513], [103225003, 103225117], [103226281, 103226386], [103231041, 103231175], [103236273, 103236368], [103237112, 103237246], [103238145, 103238262], [103244376, 103244532], [103251054, 103251102]]
ENST00000522368 [[103219972, 103220513], [103225003, 103225117], [103226281, 103226386], [103231041, 103231175], [103236273, 103236368], [103237112, 103237246], [103238145, 103238262], [103244376, 103244532], [103250786, 103251003]] [[103220360, 103220513], [103225003, 103225117], [103226281, 103226386], [103231041, 103231175], [103236273, 103236368], [103237112, 103237246], [103238145, 103238262], [103244376, 103244532], [103250786, 103251003]]
ENST00000395910 [[103220003, 103220513], [103225003, 103225117], [103226281, 103226457]] None
ENST00000395912 [[103220360, 103220513], [103225003, 103225117], [103226281, 103226386], [103231041, 103231175], [103236273, 103236368], [103237112, 103237246], [103238145, 103238262], [103251054, 103251102]] [[103220360, 103220513], [103225003, 103225117], [103226281, 103226386], [103231041, 103231175], [103236273, 103236368], [103237112, 103237246], [103238145, 103238262], [103251054, 103251102]]
ENST00000519962 [[103220360, 103220513], [103251054, 103251102]] [[103220360, 103220513], [103251054, 103251102]]
ENST00000522394 [[103220360, 103220513], [103225003, 103225117], [103244458, 103244532], [103251054, 103251102]] [[103225107, 103225117], [103244458, 103244532], [103251054, 103251102]]
ENST00000519317 [[103220360, 103220513], [103225003, 103225117], [103226281, 103226386], [103251054, 103251102]] [[103220360, 103220513], [103225003, 103225117], [103226281, 103226386], [103251054, 103251102]]
ENST00000519125 [[103225003, 103225117], [103226281, 103226386], [103231041, 103231243]] None
ENST00000523957 [[103237150, 103237246], [103238145, 103238262], [103244376, 103244532], [103246952, 103247073], [103251054, 103251167]] [[103244503, 103244532], [103246952, 103247073], [103251054, 103251102]]
ENST00000517517 [[103238202, 103238262], [103244376, 103244532], [103250668, 103251025]] None
NM_001172477 [[103216728, 103220513], [103225003, 103225117], [103226281, 103226386], [103231041, 103231175], [103236273, 103236368], [103237112, 103237246], [103238145, 103238262], [103244376, 103244532], [103250786, 103251059]] [[103220360, 103220513], [103225003, 103225117], [103226281, 103226386], [103231041, 103231175], [103236273, 103236368], [103237112, 103237246], [103238145, 103238262], [103244376, 103244532], [103250786, 103251050]]
NM_015713 [[103216728, 103220513], [103225003, 103225117], [103226281, 103226386], [103231041, 103231175], [103236273, 103236368], [103237112, 103237246], [103238145, 103238262], [103244376, 103244532], [103251054, 103251346]] [[103220360, 103220513], [103225003, 103225117], [103226281, 103226386], [103231041, 103231175], [103236273, 103236368], [103237112, 103237246], [103238145, 103238262], [103244376, 103244532], [103251054, 103251102]]
NM_001172478 [[103216728, 103220513], [103225003, 103225117], [103226281, 103226386], [103231041, 103231175], [103236273, 103236368], [103237112, 103237246], [103238145, 103238262], [103251054, 103251346]] [[103220360, 103220513], [103225003, 103225117], [103226281, 103226386], [103231041, 103231175], [103236273, 103236368], [103237112, 103237246], [103238145, 103238262], [103251054, 103251102]]
Promoter
Chrom Start End Description
chr8 103250815 103250825 CAGE_peak_14_at_RRM2B_5end
chr8 103250828 103250841 CAGE_peak_13_at_RRM2B_5end
chr8 103250916 103250932 CAGE_peak_7_at_RRM2B_5end
chr8 103250962 103250985 CAGE_peak_5_at_RRM2B_5end
chr8 103250997 103251008 CAGE_peak_6_at_RRM2B_5end
chr8 103251016 103251032 CAGE_peak_2_at_RRM2B_5end
chr8 103251106 103251130 CAGE_peak_4_at_RRM2B_5end
chr8 103251131 103251208 CAGE_peak_1_at_RRM2B_5end
chr8 103251274 103251292 CAGE_peak_3_at_RRM2B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I102407 102407893 102414105 2.06 [{'connected_gene': 'UBR5', 'score': 561.72}, {'connected_gene': 'LOC105375683', 'score': 550.77}, {'connected_gene': 'ENSG00000272037', 'score': 12.09}, {'connected_gene': 'RRM2B', 'score': 10.08}, {'connected_gene': 'UBR5-AS1', 'score': 6.17}]
chr8 GH08I102382 102382617 102383966 0.8 [{'connected_gene': 'UBR5', 'score': 11.81}, {'connected_gene': 'LOC105375683', 'score': 11.81}, {'connected_gene': 'RNU6ATAC8P', 'score': 11.78}, {'connected_gene': 'RRM2B', 'score': 8.81}, {'connected_gene': 'UBR5-AS1', 'score': 5.36}, {'connected_gene': 'ENSG00000272037', 'score': 0.13}]
chr8 GH08I102196 102196748 102197824 1.25 [{'connected_gene': 'RRM2B', 'score': 15.08}, {'connected_gene': 'KLF10', 'score': 2.31}, {'connected_gene': 'ENSG00000254492', 'score': 0.26}]
chr8 GH08I102289 102289342 102291980 0.8 [{'connected_gene': 'RRM2B', 'score': 12.44}, {'connected_gene': 'UBR5', 'score': 11.18}, {'connected_gene': 'LOC105375683', 'score': 11.18}, {'connected_gene': 'RNU6ATAC8P', 'score': 11.17}, {'connected_gene': 'UBR5-AS1', 'score': 5.48}, {'connected_gene': 'ENSG00000272037', 'score': 0.29}]
chr8 GH08I102392 102392753 102392902 0.87 [{'connected_gene': 'RRM2B', 'score': 7.72}, {'connected_gene': 'UBR5', 'score': 0.34}, {'connected_gene': 'ENSG00000272037', 'score': 0.12}]
chr8 GH08I102404 102404833 102405800 0.58 [{'connected_gene': 'RRM2B', 'score': 9.48}, {'connected_gene': 'UBR5', 'score': 0.44}, {'connected_gene': 'ENSG00000272037', 'score': 0.11}]
chr8 GH08I102474 102474544 102474872 0.22 [{'connected_gene': 'RRM2B', 'score': 6.08}, {'connected_gene': 'HSPE1P14', 'score': 0.34}, {'connected_gene': 'RPS12P15', 'score': 0.31}]
chr8 GH08I102235 102235976 102240759 2.52 [{'connected_gene': 'RRM2B', 'score': 578.38}, {'connected_gene': 'UBR5-AS1', 'score': 562.51}, {'connected_gene': 'UBR5', 'score': 17.23}, {'connected_gene': 'ENSG00000272037', 'score': 12.35}, {'connected_gene': 'KLF10', 'score': 1.18}, {'connected_gene': 'ENSG00000254492', 'score': 0.18}]
chr8 GH08I102286 102286732 102288522 0.98 [{'connected_gene': 'RRM2B', 'score': 12.46}, {'connected_gene': 'UBR5-AS1', 'score': 5.5}, {'connected_gene': 'ENSG00000272037', 'score': 0.29}, {'connected_gene': 'UBR5', 'score': 0.13}]
chr8 GH08I102487 102487953 102488102 0.62 [{'connected_gene': 'RRM2B', 'score': 5.53}, {'connected_gene': 'RPS12P15', 'score': 0.37}, {'connected_gene': 'HSPE1P14', 'score': 0.28}]
chr8 GH08I102232 102232236 102233880 0.52 [{'connected_gene': 'RRM2B', 'score': 15.39}, {'connected_gene': 'ENSG00000254492', 'score': 0.18}]
chr8 GH08I102231 102231393 102231542 0.82 [{'connected_gene': 'RRM2B', 'score': 0.44}, {'connected_gene': 'ENSG00000254492', 'score': 0.18}]
chr8 GH08I102367 102367402 102368999 0.66 [{'connected_gene': 'RNU6ATAC8P', 'score': 11.67}, {'connected_gene': 'UBR5', 'score': 10.93}, {'connected_gene': 'LOC105375683', 'score': 10.93}, {'connected_gene': 'RRM2B', 'score': 8.42}, {'connected_gene': 'UBR5-AS1', 'score': 5.38}, {'connected_gene': 'ENSG00000272037', 'score': 0.14}]
chr8 GH08I102217 102217033 102217940 0.2 [{'connected_gene': 'UBR5-AS1', 'score': 6.17}, {'connected_gene': 'RRM2B', 'score': 0.34}, {'connected_gene': 'ENSG00000254492', 'score': 0.21}]
chr8 GH08I102191 102191053 102191222 0.2 [{'connected_gene': 'ENSG00000254492', 'score': 0.28}, {'connected_gene': 'RRM2B', 'score': 0.25}]

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