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
ENST00000262138 [[64961025, 64961247], [65014304, 65014388], [65020975, 65021116], [65026581, 65029514]] [[64961027, 64961247], [65014304, 65014388], [65020975, 65021116], [65026581, 65027120]]
NM_014405 [[64960979, 64961247], [65014304, 65014388], [65020975, 65021116], [65026581, 65029518]] [[64961027, 64961247], [65014304, 65014388], [65020975, 65021116], [65026581, 65027120]]
Promoter
Chrom Start End Description
chr17 64960778 64960804 CAGE_peak_2_at_CACNG4_5end
chr17 64960810 64960831 CAGE_peak_1_at_CACNG4_5end
chr17 64960832 64960852 CAGE_peak_3_at_CACNG4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I067042 67042447 67048275 1.43 [{'connected_gene': 'CACNG1', 'score': 550.77}, {'connected_gene': 'CACNG4', 'score': 11.39}, {'connected_gene': 'ENSG00000264421', 'score': 7.76}, {'connected_gene': 'GC17M067071', 'score': 0.29}]
chr17 GH17I066652 66652836 66656592 0.66 [{'connected_gene': 'APOH', 'score': 10.27}, {'connected_gene': 'CACNG4', 'score': 4.5}, {'connected_gene': 'RNA5SP445', 'score': 0.37}, {'connected_gene': 'ENSG00000229330', 'score': 0.34}, {'connected_gene': 'PRKCA', 'score': 0.05}]
chr17 GH17I066694 66694533 66694736 0.23 [{'connected_gene': 'CACNG4', 'score': 1.87}, {'connected_gene': 'PRKCA', 'score': 1.24}, {'connected_gene': 'ENSG00000229330', 'score': 0.37}, {'connected_gene': 'PIR44901', 'score': 0.29}]
chr17 GH17I066702 66702683 66702832 0.8 [{'connected_gene': 'CACNG4', 'score': 10.4}, {'connected_gene': 'PIR44901', 'score': 0.31}, {'connected_gene': 'ENSG00000229330', 'score': 0.31}, {'connected_gene': 'PRKCA', 'score': 0.05}]
chr17 GH17I066943 66943415 66945184 0.92 [{'connected_gene': 'CACNG4', 'score': 22.28}, {'connected_gene': 'CACNG5', 'score': 10.8}, {'connected_gene': 'MIR634', 'score': 10.31}, {'connected_gene': 'GC17P066938', 'score': 0.44}]
chr17 GH17I066776 66776508 66779620 0.68 [{'connected_gene': 'CACNG4', 'score': 10.93}, {'connected_gene': 'CACNG5', 'score': 10.82}, {'connected_gene': 'GC17P066788', 'score': 0.44}, {'connected_gene': 'PIR44901', 'score': 0.25}, {'connected_gene': 'PRKCA', 'score': 0.04}]
chr17 GH17I066949 66949473 66954945 1.63 [{'connected_gene': 'CACNG4', 'score': 22.71}, {'connected_gene': 'NOL11', 'score': 15.08}, {'connected_gene': 'HELZ', 'score': 14.41}, {'connected_gene': 'CACNG5', 'score': 10.79}, {'connected_gene': 'GC17P066938', 'score': 0.39}]
chr17 GH17I066963 66963665 66963814 0.91 [{'connected_gene': 'CACNG4', 'score': 550.77}, {'connected_gene': 'NOL11', 'score': 15.08}, {'connected_gene': 'HELZ', 'score': 14.41}, {'connected_gene': 'GC17P066938', 'score': 0.31}]
chr17 GH17I067005 67005794 67005932 0.22 [{'connected_gene': 'CACNG4', 'score': 12.78}, {'connected_gene': 'GC17M066972', 'score': 0.44}, {'connected_gene': 'GC17P066973', 'score': 0.29}]
chr17 GH17I066965 66963985 66964134 0.87 [{'connected_gene': 'CACNG4', 'score': 550.77}, {'connected_gene': 'GC17P066938', 'score': 0.31}]
chr17 GH17I066967 66966948 66967063 0.61 [{'connected_gene': 'CACNG4', 'score': 0.77}, {'connected_gene': 'GC17P066973', 'score': 0.44}]
chr17 GH17I066964 66964365 66965001 1.87 [{'connected_gene': 'CACNG4', 'score': 550.77}, {'connected_gene': 'GC17P066938', 'score': 0.31}]
chr17 GH17I066966 66965400 66965821 1.48 [{'connected_gene': 'CACNG4', 'score': 559.68}, {'connected_gene': 'GC17P066973', 'score': 0.44}]
chr17 GH17I066957 66957519 66958757 1.04 [{'connected_gene': 'CACNG5', 'score': 10.36}, {'connected_gene': 'CACNG4', 'score': 5.6}, {'connected_gene': 'GC17P066938', 'score': 0.37}]
chr17 GH17I067289 67289105 67291964 0.85 [{'connected_gene': 'RNA5SP447', 'score': 13.11}, {'connected_gene': 'HELZ', 'score': 12.02}, {'connected_gene': 'CACNG4', 'score': 6.26}, {'connected_gene': 'NOL11', 'score': 5.29}, {'connected_gene': 'ENSG00000264093', 'score': 0.39}, {'connected_gene': 'GC17M067328', 'score': 0.28}]
chr17 GH17I066947 66947385 66947534 0.51 [{'connected_gene': 'GC17P066938', 'score': 0.44}, {'connected_gene': 'CACNG4', 'score': 0.37}]
chr17 GH17I066980 66980125 66980274 0.2 [{'connected_gene': 'GC17P066973', 'score': 0.44}, {'connected_gene': 'CACNG4', 'score': 0.37}, {'connected_gene': 'GC17M066972', 'score': 0.29}]
chr17 GH17I066985 66985486 66985646 0.55 [{'connected_gene': 'GC17P066973', 'score': 0.39}, {'connected_gene': 'CACNG4', 'score': 0.34}, {'connected_gene': 'GC17M066972', 'score': 0.31}]