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
ENST00000518164 [[99037078, 99037966], [99057170, 99057316], [99057574, 99057627], [99057735, 99057776]] None
ENST00000521534 [[99053946, 99054078], [99054872, 99055313]] None
ENST00000521291 [[99053948, 99054078], [99054872, 99055003], [99057170, 99057316], [99057574, 99057742]] [[99054028, 99054078], [99054872, 99055003], [99057170, 99057316], [99057574, 99057595]]
ENST00000396070 [[99053948, 99054078], [99054872, 99054946], [99057170, 99057316], [99057574, 99057627], [99057735, 99057772]] [[99054028, 99054078], [99054872, 99054946], [99057170, 99057316], [99057574, 99057595]]
ENST00000518850 [[99053948, 99054078], [99054872, 99055003], [99057054, 99057316], [99057574, 99057627], [99057735, 99057773]] [[99057166, 99057316], [99057574, 99057595]]
ENST00000287038 [[99053948, 99054078], [99054872, 99055003], [99057170, 99057316], [99057574, 99057627], [99057735, 99057818]] [[99054028, 99054078], [99054872, 99055003], [99057170, 99057316], [99057574, 99057595]]
ENST00000523172 [[99054027, 99054078], [99054872, 99055003], [99057574, 99057627], [99057735, 99057774]] [[99054028, 99054078], [99054872, 99054978]]
ENST00000521726 [[99054034, 99054078], [99054872, 99055003], [99057170, 99057316], [99057574, 99057627], [99057942, 99058697]] [[99054034, 99054078], [99054872, 99055003], [99057170, 99057316], [99057574, 99057595]]
ENST00000517489 [[99054872, 99055003], [99057170, 99057627], [99057735, 99057778]] None
ENST00000517805 [[99055058, 99055435], [99056304, 99056360]] None
ENST00000522156 [[99055674, 99055902], [99056166, 99056469]] None
ENST00000520998 [[99056660, 99057316], [99057574, 99057627], [99057735, 99057773]] None
ENST00000521112 [[99057095, 99057627], [99057735, 99057776]] None
NM_000989 [[99053937, 99054078], [99054872, 99055003], [99057170, 99057316], [99057574, 99057627], [99057735, 99057818]] [[99054028, 99054078], [99054872, 99055003], [99057170, 99057316], [99057574, 99057595]]
Promoter
Chrom Start End Description
chr8 99053996 99054041 CAGE_peak_5_at_RPL30_5end
chr8 99054979 99055005 CAGE_peak_4_at_RPL30_5end
chr8 99057611 99057625 CAGE_peak_2_at_RPL30_5end
chr8 99057629 99057643 CAGE_peak_6_at_RPL30_5end
chr8 99057769 99057776 CAGE_peak_1_at_RPL30_5end
chr8 99058315 99058345 CAGE_peak_3_at_RPL30_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I098068 98068753 98068942 0.89 [{'connected_gene': 'RPL30', 'score': 11.53}, {'connected_gene': 'SNORA72', 'score': 11.06}, {'connected_gene': 'ENSG00000245970', 'score': 11.06}, {'connected_gene': 'RPS23P1', 'score': 9.94}, {'connected_gene': 'MATN2', 'score': 9.94}, {'connected_gene': 'ENSG00000202399', 'score': 9.31}, {'connected_gene': 'LAPTM4B', 'score': 9.31}, {'connected_gene': 'RNU6-914P', 'score': 8.8}, {'connected_gene': 'ERICH5', 'score': 0.77}, {'connected_gene': 'GC08P098099', 'score': 0.29}, {'connected_gene': 'GC08P097993', 'score': 0.18}]
chr8 GH08I098043 98043617 98046934 2.03 [{'connected_gene': 'RPL30', 'score': 562.23}, {'connected_gene': 'PIR49636', 'score': 550.77}, {'connected_gene': 'VPS13B', 'score': 43.38}, {'connected_gene': 'ENSG00000245970', 'score': 37.53}, {'connected_gene': 'POP1', 'score': 9.95}, {'connected_gene': 'GC08P097993', 'score': 0.23}, {'connected_gene': 'GC08P097916', 'score': 0.13}]
chr8 GH08I097829 97829671 97829710 0.24 [{'connected_gene': 'LAPTM4B', 'score': 29.03}, {'connected_gene': 'ENSG00000202399', 'score': 11.28}, {'connected_gene': 'RPS23P1', 'score': 10.8}, {'connected_gene': 'MATN2', 'score': 10.8}, {'connected_gene': 'RPL30', 'score': 10.18}, {'connected_gene': 'SNORA72', 'score': 10.18}, {'connected_gene': 'ENSG00000245970', 'score': 10.18}, {'connected_gene': 'ERICH5', 'score': 9.86}, {'connected_gene': 'POP1', 'score': 2.67}, {'connected_gene': 'PIR33604', 'score': 0.44}, {'connected_gene': 'GC08M097844', 'score': 0.37}]
chr8 GH08I097830 97830481 97832493 0.98 [{'connected_gene': 'LAPTM4B', 'score': 30.1}, {'connected_gene': 'ENSG00000245970', 'score': 25.24}, {'connected_gene': 'RPL30', 'score': 21.63}, {'connected_gene': 'MATN2', 'score': 19.07}, {'connected_gene': 'ENSG00000202399', 'score': 11.28}, {'connected_gene': 'RPS23P1', 'score': 10.82}, {'connected_gene': 'SNORA72', 'score': 10.18}, {'connected_gene': 'ERICH5', 'score': 9.86}, {'connected_gene': 'POP1', 'score': 2.15}, {'connected_gene': 'PIR33604', 'score': 0.44}, {'connected_gene': 'GC08M097844', 'score': 0.39}]
chr8 GH08I097887 97887265 97888413 1.24 [{'connected_gene': 'MATN2', 'score': 555.45}, {'connected_gene': 'RPS23P1', 'score': 13.19}, {'connected_gene': 'ENSG00000245970', 'score': 11.86}, {'connected_gene': 'SNORA72', 'score': 11.86}, {'connected_gene': 'RPL30', 'score': 11.86}, {'connected_gene': 'GC08P097916', 'score': 0.31}]
chr8 GH08I098085 98085581 98086000 1.03 [{'connected_gene': 'ERICH5', 'score': 11.79}, {'connected_gene': 'RIDA', 'score': 10.94}, {'connected_gene': 'POP1', 'score': 10.94}, {'connected_gene': 'MATN2', 'score': 10.74}, {'connected_gene': 'RPS23P1', 'score': 10.74}, {'connected_gene': 'RPL30', 'score': 10.7}, {'connected_gene': 'SNORA72', 'score': 10.68}, {'connected_gene': 'ENSG00000245970', 'score': 10.68}, {'connected_gene': 'GC08P098099', 'score': 0.39}, {'connected_gene': 'GC08P097993', 'score': 0.16}]
chr8 GH08I098816 98816271 98818637 0.79 [{'connected_gene': 'VPS13B', 'score': 17.48}, {'connected_gene': 'ENSG00000245970', 'score': 15.09}, {'connected_gene': 'RPL30', 'score': 11.49}, {'connected_gene': 'RPL19P14', 'score': 0.28}, {'connected_gene': 'LOC643494', 'score': 0.17}, {'connected_gene': 'STK3', 'score': 0.13}]
chr8 GH08I099011 99011870 99014787 2.1 [{'connected_gene': 'VPS13B', 'score': 633.66}, {'connected_gene': 'LOC105375666', 'score': 550.77}, {'connected_gene': 'ENSG00000245970', 'score': 60.36}, {'connected_gene': 'RPL30', 'score': 30.86}, {'connected_gene': 'OSR2', 'score': 21.56}, {'connected_gene': 'ENSG00000271930', 'score': 12.52}, {'connected_gene': 'POP1', 'score': 9.78}, {'connected_gene': 'ENSG00000253562', 'score': 0.18}]
chr8 GH08I098116 98116001 98119168 2.02 [{'connected_gene': 'RIDA', 'score': 555.74}, {'connected_gene': 'POP1', 'score': 550.77}, {'connected_gene': 'RNU6-703P', 'score': 11.36}, {'connected_gene': 'RPL30', 'score': 11.35}, {'connected_gene': 'GC08M098127', 'score': 0.39}, {'connected_gene': 'GC08P097993', 'score': 0.13}]
chr8 GH08I098024 98024196 98025792 0.31 [{'connected_gene': 'GC08M098021', 'score': 550.77}, {'connected_gene': 'RPS23P1', 'score': 11.22}, {'connected_gene': 'MATN2', 'score': 11.22}, {'connected_gene': 'ENSG00000202399', 'score': 9.55}, {'connected_gene': 'LAPTM4B', 'score': 9.55}, {'connected_gene': 'GC08M098007', 'score': 0.44}, {'connected_gene': 'RPL30', 'score': 0.34}, {'connected_gene': 'GC08P097993', 'score': 0.29}, {'connected_gene': 'GC08P097916', 'score': 0.14}]
chr8 GH08I098031 98031215 98032992 0.38 [{'connected_gene': 'GC08M098007', 'score': 550.77}, {'connected_gene': 'RPS23P1', 'score': 11.42}, {'connected_gene': 'MATN2', 'score': 11.41}, {'connected_gene': 'ERICH5', 'score': 10.84}, {'connected_gene': 'ENSG00000245970', 'score': 0.44}, {'connected_gene': 'RPL30', 'score': 0.39}, {'connected_gene': 'GC08P097993', 'score': 0.28}, {'connected_gene': 'GC08P097916', 'score': 0.13}]
chr8 GH08I098033 98033413 98033562 0.58 [{'connected_gene': 'GC08M098007', 'score': 0.77}, {'connected_gene': 'ENSG00000245970', 'score': 0.44}, {'connected_gene': 'RPL30', 'score': 0.39}, {'connected_gene': 'GC08P097993', 'score': 0.28}, {'connected_gene': 'GC08P097916', 'score': 0.13}, {'connected_gene': 'MATN2', 'score': 0.1}]
chr8 GH08I098037 98037193 98037362 0.71 [{'connected_gene': 'ENSG00000245970', 'score': 0.77}, {'connected_gene': 'RPL30', 'score': 0.44}, {'connected_gene': 'GC08M098007', 'score': 0.44}, {'connected_gene': 'GC08P097993', 'score': 0.26}, {'connected_gene': 'GC08P097916', 'score': 0.13}]