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
ENST00000375599 [[16558194, 16558792], [16559004, 16559141], [16559387, 16559512], [16560106, 16560259], [16563125, 16563657]] [[16558542, 16558792], [16559004, 16559141], [16559387, 16559512], [16560106, 16560259], [16563125, 16563237]]
ENST00000434014 [[16558775, 16558792], [16559004, 16559141], [16560106, 16560259], [16563125, 16563154]] [[16558775, 16558792], [16559004, 16559141], [16560106, 16560259], [16563125, 16563154]]
Promoter
Chrom Start End Description
chr1 16563641 16563709 CAGE_peak_1_at_RSG1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I016299 16299993 16300962 0.38 [{'connected_gene': 'RSG1', 'score': 10.99}, {'connected_gene': 'SPATA21', 'score': 10.87}, {'connected_gene': 'NECAP2', 'score': 10.86}, {'connected_gene': 'FAM131C', 'score': 10.56}, {'connected_gene': 'GC01P016328', 'score': 0.31}, {'connected_gene': 'PIR62474', 'score': 0.25}, {'connected_gene': 'FBXO42', 'score': 0.23}]
chr1 GH01I016206 16205106 16205255 0.77 [{'connected_gene': 'RSG1', 'score': 11.78}, {'connected_gene': 'FAM131C', 'score': 11.13}, {'connected_gene': 'ENSG00000224621', 'score': 11.12}, {'connected_gene': 'GC01P016210', 'score': 0.44}, {'connected_gene': 'ARHGEF19', 'score': 0.44}, {'connected_gene': 'ARHGEF19-AS1', 'score': 0.44}]
chr1 GH01I016236 16236005 16238329 2.23 [{'connected_gene': 'RSG1', 'score': 570.56}, {'connected_gene': 'ARHGEF19', 'score': 31.68}, {'connected_gene': 'NECAP2', 'score': 15.03}, {'connected_gene': 'ARHGEF19-AS1', 'score': 11.65}, {'connected_gene': 'FAM131C', 'score': 11.28}, {'connected_gene': 'ZBTB17', 'score': 10.03}, {'connected_gene': 'LINC01783', 'score': 5.74}, {'connected_gene': 'GC01M016230', 'score': 0.77}]
chr1 GH01I016293 16293402 16294200 0.31 [{'connected_gene': 'RSG1', 'score': 15.49}, {'connected_gene': 'ARHGEF19', 'score': 12.79}, {'connected_gene': 'FAM131C', 'score': 10.58}, {'connected_gene': 'GC01P016328', 'score': 0.29}, {'connected_gene': 'PIR62474', 'score': 0.28}, {'connected_gene': 'FBXO42', 'score': 0.22}]
chr1 GH01I016186 16186354 16187284 0.46 [{'connected_gene': 'RSG1', 'score': 11.67}, {'connected_gene': 'ARHGEF19', 'score': 11.3}, {'connected_gene': 'ARHGEF19-AS1', 'score': 0.39}, {'connected_gene': 'GC01P016173', 'score': 0.39}]
chr1 GH01I016364 16364442 16365599 0.89 [{'connected_gene': 'RSG1', 'score': 15.69}, {'connected_gene': 'ANO7L1', 'score': 9.72}, {'connected_gene': 'ARHGEF19', 'score': 9.6}, {'connected_gene': 'RPL22P3', 'score': 0.77}, {'connected_gene': 'SZRD1', 'score': 0.39}]
chr1 GH01I016189 16189748 16190120 0.49 [{'connected_gene': 'RSG1', 'score': 13.82}, {'connected_gene': 'ARHGEF19-AS1', 'score': 0.44}, {'connected_gene': 'GC01P016173', 'score': 0.37}]
chr1 GH01I016366 16366488 16369476 1.81 [{'connected_gene': 'RPL22P3', 'score': 550.77}, {'connected_gene': 'RSG1', 'score': 25.53}, {'connected_gene': 'ARHGEF19', 'score': 17.83}, {'connected_gene': 'FBXO42', 'score': 7.36}, {'connected_gene': 'SZRD1', 'score': 0.37}]
chr1 GH01I016121 16121736 16124229 1.18 [{'connected_gene': 'RPL22P3', 'score': 23.69}, {'connected_gene': 'SPEN', 'score': 21.83}, {'connected_gene': 'MFAP2', 'score': 20.36}, {'connected_gene': 'FBXO42', 'score': 18.06}, {'connected_gene': 'ZBTB17', 'score': 15.25}, {'connected_gene': 'EIF1AXP1', 'score': 12.91}, {'connected_gene': 'CROCCP3', 'score': 12.19}, {'connected_gene': 'ENSG00000224621', 'score': 12.08}, {'connected_gene': 'FAM131C', 'score': 11.55}, {'connected_gene': 'NECAP2', 'score': 11.25}, {'connected_gene': 'ARHGEF19-AS1', 'score': 11.25}, {'connected_gene': 'CROCC', 'score': 10.93}, {'connected_gene': 'NBPF1', 'score': 10.76}, {'connected_gene': 'ENSG00000226526', 'score': 10.24}, {'connected_gene': 'LINC01772', 'score': 10.21}, {'connected_gene': 'CLCNKB', 'score': 5.21}, {'connected_gene': 'ESPNP', 'score': 4.85}, {'connected_gene': 'RSG1', 'score': 4.28}, {'connected_gene': 'GC01P016103', 'score': 0.37}, {'connected_gene': 'LOC101927479', 'score': 0.29}]
chr1 GH01I016109 16109361 16110461 0.38 [{'connected_gene': 'FAM131C', 'score': 12.0}, {'connected_gene': 'ARHGEF19-AS1', 'score': 11.41}, {'connected_gene': 'ENSG00000224621', 'score': 11.13}, {'connected_gene': 'RSG1', 'score': 10.89}, {'connected_gene': 'GC01P016103', 'score': 0.44}, {'connected_gene': 'LOC101927479', 'score': 0.25}]
chr1 GH01I016066 16066425 16068921 0.81 [{'connected_gene': 'HSPB7', 'score': 12.05}, {'connected_gene': 'CLCNKA', 'score': 12.05}, {'connected_gene': 'ENSG00000233078', 'score': 12.01}, {'connected_gene': 'FAM131C', 'score': 11.98}, {'connected_gene': 'ARHGEF19-AS1', 'score': 11.81}, {'connected_gene': 'ENSG00000224621', 'score': 11.42}, {'connected_gene': 'RSG1', 'score': 11.09}, {'connected_gene': 'FBLIM1', 'score': 10.33}, {'connected_gene': 'CLCNKB', 'score': 0.34}]
chr1 GH01I016373 16373647 16377399 1.14 [{'connected_gene': 'ARHGEF19', 'score': 18.77}, {'connected_gene': 'RSG1', 'score': 9.44}, {'connected_gene': 'CROCC', 'score': 4.96}, {'connected_gene': 'RPL22P3', 'score': 0.44}, {'connected_gene': 'GC01P016389', 'score': 0.39}, {'connected_gene': 'SZRD1', 'score': 0.34}]
chr1 GH01I016187 16187346 16189603 1.35 [{'connected_gene': 'ARHGEF19', 'score': 20.52}, {'connected_gene': 'RSG1', 'score': 13.86}, {'connected_gene': 'TRE-TTC3-1', 'score': 5.59}, {'connected_gene': 'ARHGEF19-AS1', 'score': 0.44}, {'connected_gene': 'GC01P016173', 'score': 0.37}]
chr1 GH01I016195 16195055 16195958 0.77 [{'connected_gene': 'ARHGEF19', 'score': 41.79}, {'connected_gene': 'RSG1', 'score': 14.37}, {'connected_gene': 'SPEN', 'score': 13.73}, {'connected_gene': 'CROCC', 'score': 11.38}, {'connected_gene': 'RPL22P3', 'score': 11.29}, {'connected_gene': 'ENSG00000237938', 'score': 10.26}, {'connected_gene': 'MFAP2', 'score': 9.89}, {'connected_gene': 'ARHGEF19-AS1', 'score': 0.77}, {'connected_gene': 'GC01P016173', 'score': 0.34}]
chr1 GH01I016205 16205314 16209044 1.74 [{'connected_gene': 'ARHGEF19', 'score': 65.41}, {'connected_gene': 'RSG1', 'score': 25.81}, {'connected_gene': 'NBPF1', 'score': 12.08}, {'connected_gene': 'FAM131C', 'score': 11.13}, {'connected_gene': 'ENSG00000224621', 'score': 11.12}, {'connected_gene': 'SZRD1', 'score': 10.76}, {'connected_gene': 'CROCC', 'score': 10.74}, {'connected_gene': 'MFAP2', 'score': 9.93}, {'connected_gene': 'GC01P016210', 'score': 0.77}, {'connected_gene': 'ARHGEF19-AS1', 'score': 0.44}]
chr1 GH01I016402 16402545 16403558 0.2 [{'connected_gene': 'ARHGEF19', 'score': 18.94}, {'connected_gene': 'RSG1', 'score': 14.65}, {'connected_gene': 'SPATA21', 'score': 11.77}, {'connected_gene': 'NECAP2', 'score': 11.75}, {'connected_gene': 'PIR56124', 'score': 0.44}]
chr1 GH01I016211 16211601 16213381 1.61 [{'connected_gene': 'ARHGEF19', 'score': 586.44}, {'connected_gene': 'GC01P016210', 'score': 550.77}, {'connected_gene': 'RSG1', 'score': 11.83}, {'connected_gene': 'FAM131C', 'score': 11.13}, {'connected_gene': 'ENSG00000224621', 'score': 11.1}]
chr1 GH01I016191 16191348 16192567 0.46 [{'connected_gene': 'ARHGEF19', 'score': 19.45}, {'connected_gene': 'RSG1', 'score': 13.92}, {'connected_gene': 'ARHGEF19-AS1', 'score': 0.44}, {'connected_gene': 'GC01P016173', 'score': 0.37}]
chr1 GH01I016370 16370994 16373241 1.09 [{'connected_gene': 'ARHGEF19', 'score': 18.84}, {'connected_gene': 'RSG1', 'score': 10.36}, {'connected_gene': 'LINC01783', 'score': 5.32}, {'connected_gene': 'RPL22P3', 'score': 0.77}, {'connected_gene': 'SZRD1', 'score': 0.37}, {'connected_gene': 'GC01P016389', 'score': 0.37}]
chr1 GH01I016171 16171446 16185389 1.76 [{'connected_gene': 'ARHGEF19', 'score': 25.27}, {'connected_gene': 'TRE-TTC3-1', 'score': 16.28}, {'connected_gene': 'NECAP2', 'score': 15.02}, {'connected_gene': 'EPHA2', 'score': 14.06}, {'connected_gene': 'FAM131C', 'score': 12.35}, {'connected_gene': 'CROCCP3', 'score': 10.38}, {'connected_gene': 'LINC01772', 'score': 10.1}, {'connected_gene': 'ZBTB17', 'score': 10.04}, {'connected_gene': 'ENSG00000237301', 'score': 9.95}, {'connected_gene': 'RSG1', 'score': 9.84}, {'connected_gene': 'NBPF1', 'score': 9.77}, {'connected_gene': 'LINC01783', 'score': 5.34}, {'connected_gene': 'FBLIM1', 'score': 4.1}, {'connected_gene': 'SRARP', 'score': 1.94}, {'connected_gene': 'SPEN', 'score': 1.29}, {'connected_gene': 'GC01P016173', 'score': 0.44}, {'connected_gene': 'ARHGEF19-AS1', 'score': 0.37}]
chr1 GH01I016198 16198941 16199837 0.62 [{'connected_gene': 'ARHGEF19-AS1', 'score': 550.77}, {'connected_gene': 'ARHGEF19', 'score': 25.23}, {'connected_gene': 'RSG1', 'score': 13.52}, {'connected_gene': 'GC01P016210', 'score': 0.39}]
chr1 GH01I016902 16902591 16907508 2.21 [{'connected_gene': 'ENSG00000272426', 'score': 550.77}, {'connected_gene': 'CROCC', 'score': 47.99}, {'connected_gene': 'ZBTB17', 'score': 47.69}, {'connected_gene': 'CROCCP3', 'score': 47.57}, {'connected_gene': 'LINC01772', 'score': 32.77}, {'connected_gene': 'RPL22P3', 'score': 29.75}, {'connected_gene': 'ARHGEF19', 'score': 29.11}, {'connected_gene': 'MFAP2', 'score': 28.49}, {'connected_gene': 'NBPF1', 'score': 27.17}, {'connected_gene': 'NECAP2', 'score': 23.67}, {'connected_gene': 'SZRD1', 'score': 20.77}, {'connected_gene': 'EIF1AXP1', 'score': 16.68}, {'connected_gene': 'ENSG00000226526', 'score': 11.59}, {'connected_gene': 'TRE-TTC3-1', 'score': 11.3}, {'connected_gene': 'FBXO42', 'score': 10.66}, {'connected_gene': 'RSG1', 'score': 10.51}, {'connected_gene': 'ENSG00000224621', 'score': 10.13}, {'connected_gene': 'RCC2', 'score': 9.98}, {'connected_gene': 'LOC105376805', 'score': 8.72}, {'connected_gene': 'ENSG00000235241', 'score': 7.77}, {'connected_gene': 'FAM131C', 'score': 4.28}, {'connected_gene': 'PADI2', 'score': 1.45}, {'connected_gene': 'PADI4', 'score': 1.16}, {'connected_gene': 'GC01M016886', 'score': 0.34}]
chr1 GH01I016209 16209601 16210200 0.74 [{'connected_gene': 'GC01P016210', 'score': 550.77}, {'connected_gene': 'RSG1', 'score': 25.92}, {'connected_gene': 'ENSG00000237938', 'score': 18.24}, {'connected_gene': 'SPEN', 'score': 12.69}, {'connected_gene': 'ZBTB17', 'score': 12.25}, {'connected_gene': 'RPS16P1', 'score': 11.48}, {'connected_gene': 'FAM131C', 'score': 11.13}, {'connected_gene': 'ENSG00000224621', 'score': 11.1}, {'connected_gene': 'ARHGEF19', 'score': 10.78}, {'connected_gene': 'FBXO42', 'score': 9.94}, {'connected_gene': 'ARHGEF19-AS1', 'score': 0.39}]
chr1 GH01I016125 16125473 16129873 0.74 [{'connected_gene': 'ENSG00000224621', 'score': 12.69}, {'connected_gene': 'FAM131C', 'score': 11.84}, {'connected_gene': 'ARHGEF19-AS1', 'score': 11.38}, {'connected_gene': 'ARHGEF19', 'score': 10.47}, {'connected_gene': 'CLCNKB', 'score': 5.71}, {'connected_gene': 'RSG1', 'score': 5.17}, {'connected_gene': 'LOC105376805', 'score': 4.58}, {'connected_gene': 'GC01P016103', 'score': 0.34}, {'connected_gene': 'LOC101927479', 'score': 0.31}, {'connected_gene': 'EPHA2', 'score': 0.31}]
chr1 GH01I016247 16247059 16250599 1.43 [{'connected_gene': 'PIR51330', 'score': 550.77}, {'connected_gene': 'ARHGEF19', 'score': 30.15}, {'connected_gene': 'CROCC', 'score': 29.93}, {'connected_gene': 'SPEN', 'score': 22.71}, {'connected_gene': 'RSG1', 'score': 15.19}, {'connected_gene': 'FBXO42', 'score': 11.38}, {'connected_gene': 'SZRD1', 'score': 11.38}, {'connected_gene': 'ARHGEF19-AS1', 'score': 11.37}, {'connected_gene': 'RPL22P3', 'score': 11.32}, {'connected_gene': 'CROCCP2', 'score': 10.55}, {'connected_gene': 'ENSG00000237938', 'score': 10.24}, {'connected_gene': 'EIF1AXP1', 'score': 9.94}, {'connected_gene': 'MFAP2', 'score': 9.89}, {'connected_gene': 'MT1XP1', 'score': 5.28}, {'connected_gene': 'GC01M016252', 'score': 0.77}, {'connected_gene': 'PIR57319', 'score': 0.77}]
chr1 GH01I016210 16210225 16210284 0.81 [{'connected_gene': 'GC01P016210', 'score': 550.77}, {'connected_gene': 'ARHGEF19', 'score': 550.77}, {'connected_gene': 'RSG1', 'score': 11.8}, {'connected_gene': 'FAM131C', 'score': 11.13}, {'connected_gene': 'ENSG00000224621', 'score': 11.1}, {'connected_gene': 'ARHGEF19-AS1', 'score': 0.39}]
chr1 GH01I016227 16227967 16233681 0.78 [{'connected_gene': 'GC01M016230', 'score': 550.77}, {'connected_gene': 'ARHGEF19', 'score': 20.21}, {'connected_gene': 'RSG1', 'score': 19.64}, {'connected_gene': 'ANO7L1', 'score': 17.56}, {'connected_gene': 'SZRD1', 'score': 10.77}, {'connected_gene': 'MFAP2', 'score': 9.93}, {'connected_gene': 'FBXO42', 'score': 8.3}, {'connected_gene': 'LINC01783', 'score': 5.29}]
chr1 GH01I016395 16395955 16397426 0.63 [{'connected_gene': 'PIR56124', 'score': 550.77}, {'connected_gene': 'ARHGEF19', 'score': 18.96}, {'connected_gene': 'SPATA21', 'score': 11.6}, {'connected_gene': 'NECAP2', 'score': 11.6}, {'connected_gene': 'ARHGEF19-AS1', 'score': 9.74}, {'connected_gene': 'RSG1', 'score': 8.52}, {'connected_gene': 'LINC01783', 'score': 4.82}, {'connected_gene': 'GC01P016389', 'score': 0.44}, {'connected_gene': 'SZRD1', 'score': 0.26}]