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
ENST00000411922 [[183960088, 183960464], [183960600, 183960745], [183961341, 183961418], [183961578, 183961784], [183962388, 183962509], [183962985, 183963146], [183963255, 183963403], [183966532, 183966750]] [[183963275, 183963403], [183966532, 183966728]]
ENST00000418734 [[183960088, 183960464], [183960600, 183960745], [183961341, 183961418], [183961578, 183961784], [183962388, 183962509], [183962985, 183963146], [183963255, 183963403], [183966532, 183966750]] [[183960301, 183960464], [183960600, 183960745], [183961341, 183961418], [183961578, 183961784], [183962388, 183962509], [183962985, 183963146], [183963255, 183963403], [183966532, 183966660]]
ENST00000397676 [[183960121, 183960464], [183960600, 183960745], [183961341, 183961418], [183961578, 183961784], [183962388, 183962509], [183962985, 183963146], [183963255, 183963403], [183963500, 183963600], [183966532, 183966759]] [[183960301, 183960464], [183960600, 183960745], [183961341, 183961418], [183961578, 183961784], [183962388, 183962509], [183962985, 183963146], [183963255, 183963403], [183963500, 183963600], [183966532, 183966728]]
ENST00000445626 [[183960212, 183960464], [183960600, 183960745], [183961341, 183961418], [183961578, 183961784], [183962388, 183962509], [183962985, 183963146], [183963255, 183963403], [183963500, 183963600], [183967013, 183967336]] [[183960301, 183960464], [183960600, 183960745], [183961341, 183961418], [183961578, 183961784], [183962388, 183962509], [183962985, 183963146], [183963255, 183963403], [183963500, 183963600], [183967013, 183967065]]
ENST00000485912 [[183960246, 183960464], [183960600, 183961377]] None
ENST00000455059 [[183960256, 183960464], [183960600, 183960745], [183961341, 183961418], [183961578, 183961784], [183962388, 183962509], [183962985, 183963146], [183963255, 183963403], [183963500, 183963600], [183966777, 183967308]] [[183960301, 183960464], [183960600, 183960745], [183961341, 183961418], [183961578, 183961784], [183962388, 183962509], [183962985, 183963146], [183963255, 183963403], [183963500, 183963600], [183966777, 183966853]]
ENST00000446569 [[183960361, 183960464], [183960600, 183960745], [183961341, 183961418], [183961578, 183961784], [183962388, 183962509], [183962985, 183963146], [183966569, 183966723]] [[183960361, 183960464], [183960600, 183960745], [183961341, 183961418], [183961578, 183961784], [183962388, 183962509], [183962985, 183963146], [183966569, 183966723]]
ENST00000414845 [[183960672, 183960745], [183961341, 183961418], [183961578, 183961784], [183962388, 183962509], [183963255, 183963403], [183966532, 183966721]] [[183963275, 183963403], [183966532, 183966721]]
ENST00000463495 [[183960748, 183960790], [183961319, 183961418], [183961578, 183961784]] None
ENST00000462735 [[183961341, 183961418], [183961578, 183961784], [183962388, 183962809]] None
ENST00000423996 [[183961578, 183961784], [183962388, 183962509], [183962985, 183963146], [183963255, 183963403], [183963500, 183963600], [183966569, 183966737]] [[183963561, 183963600], [183966569, 183966728]]
ENST00000477959 [[183962116, 183962509], [183962985, 183963130]] None
ENST00000461415 [[183962546, 183963146], [183963255, 183963403], [183963500, 183963600], [183966569, 183966738]] None
ENST00000488976 [[183962565, 183963146], [183963255, 183963403], [183966569, 183966750]] None
ENST00000482048 [[183962854, 183963146], [183963255, 183963403], [183963500, 183963600], [183966532, 183966717]] None
NM_005787 [[183960116, 183960464], [183960600, 183960745], [183961341, 183961418], [183961578, 183961784], [183962388, 183962509], [183962985, 183963146], [183963255, 183963403], [183963500, 183963600], [183966532, 183966759]] [[183960301, 183960464], [183960600, 183960745], [183961341, 183961418], [183961578, 183961784], [183962388, 183962509], [183962985, 183963146], [183963255, 183963403], [183963500, 183963600], [183966532, 183966728]]
NR_024533 [[183960116, 183960464], [183960600, 183960745], [183961341, 183961418], [183961578, 183961784], [183962388, 183962509], [183962985, 183963146], [183963255, 183963403], [183966532, 183966759]] None
NR_024534 [[183960116, 183960464], [183960600, 183960745], [183961341, 183961418], [183961578, 183961784], [183962388, 183962509], [183962985, 183963146], [183963255, 183963403], [183963500, 183963600], [183966569, 183966759]] None
NM_001006941 [[183960116, 183960464], [183960600, 183960745], [183961341, 183961418], [183961578, 183961784], [183962388, 183962509], [183962985, 183963146], [183963255, 183963403], [183963500, 183963600], [183967013, 183967313]] [[183960301, 183960464], [183960600, 183960745], [183961341, 183961418], [183961578, 183961784], [183962388, 183962509], [183962985, 183963146], [183963255, 183963403], [183963500, 183963600], [183967013, 183967065]]
Promoter
Chrom Start End Description
chr3 183961364 183961377 CAGE_peak_7_at_ALG3_5end
chr3 183961402 183961417 CAGE_peak_6_at_ALG3_5end
chr3 183966670 183966686 CAGE_peak_3_at_ALG3_5end
chr3 183966697 183966709 CAGE_peak_5_at_ALG3_5end
chr3 183966717 183966764 CAGE_peak_1_at_ALG3_5end
chr3 183967247 183967286 CAGE_peak_4_at_ALG3_5end
chr3 183967296 183967359 CAGE_peak_2_at_ALG3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I184195 184195157 184197102 0.31 [{'connected_gene': 'ECE2', 'score': 11.5}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 11.5}, {'connected_gene': 'ALG3', 'score': 11.5}, {'connected_gene': 'EEF1AKMT4', 'score': 11.5}, {'connected_gene': 'VWA5B2', 'score': 11.37}, {'connected_gene': 'EIF2B5', 'score': 11.22}, {'connected_gene': 'MIR1224', 'score': 11.12}, {'connected_gene': 'CAMK2N2', 'score': 10.98}, {'connected_gene': 'HTR3C', 'score': 10.68}, {'connected_gene': 'PSMD2', 'score': 10.46}, {'connected_gene': 'EIF4G1', 'score': 10.25}, {'connected_gene': 'HTR3E-AS1', 'score': 9.91}, {'connected_gene': 'FAM131A', 'score': 9.86}, {'connected_gene': 'ABCC5', 'score': 9.72}, {'connected_gene': 'DVL3', 'score': 7.99}, {'connected_gene': 'ABCF3', 'score': 0.39}]
chr3 GH03I184167 184167463 184170205 0.58 [{'connected_gene': 'VWA5B2', 'score': 19.79}, {'connected_gene': 'EIF2B5', 'score': 11.74}, {'connected_gene': 'ALG3', 'score': 10.53}, {'connected_gene': 'ECE2', 'score': 10.53}, {'connected_gene': 'EEF1AKMT4', 'score': 10.53}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 10.53}, {'connected_gene': 'CAMK2N2', 'score': 10.46}, {'connected_gene': 'MIR1224', 'score': 10.38}, {'connected_gene': 'HTR3C', 'score': 9.94}, {'connected_gene': 'AP2M1', 'score': 0.44}, {'connected_gene': 'DVL3', 'score': 0.39}]
chr3 GH03I184197 184197152 184197779 0.31 [{'connected_gene': 'VWA5B2', 'score': 21.75}, {'connected_gene': 'EIF2B5', 'score': 11.22}, {'connected_gene': 'MIR1224', 'score': 11.14}, {'connected_gene': 'ALG3', 'score': 11.11}, {'connected_gene': 'CAMK2N2', 'score': 10.99}, {'connected_gene': 'ECE2', 'score': 10.92}, {'connected_gene': 'EEF1AKMT4', 'score': 10.92}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 10.92}, {'connected_gene': 'HTR3C', 'score': 10.68}, {'connected_gene': 'EIF4G1', 'score': 10.25}, {'connected_gene': 'FAM131A', 'score': 9.86}, {'connected_gene': 'HTR3E-AS1', 'score': 9.82}, {'connected_gene': 'ABCC5', 'score': 9.72}, {'connected_gene': 'ABCF3', 'score': 0.39}]
chr3 GH03I184347 184347460 184348923 0.98 [{'connected_gene': 'VWA5B2', 'score': 13.7}, {'connected_gene': 'SNORD66', 'score': 12.38}, {'connected_gene': 'EIF4G1', 'score': 12.34}, {'connected_gene': 'ALG3', 'score': 10.32}, {'connected_gene': 'CAMK2N2', 'score': 10.31}, {'connected_gene': 'EIF2B5', 'score': 9.82}, {'connected_gene': 'MIR1224', 'score': 9.49}, {'connected_gene': 'ABCF3', 'score': 8.8}, {'connected_gene': 'GC03P184344', 'score': 0.77}, {'connected_gene': 'PIR35526', 'score': 0.44}, {'connected_gene': 'GC03M184355', 'score': 0.44}, {'connected_gene': 'FAM131A', 'score': 0.39}, {'connected_gene': 'CLCN2', 'score': 0.39}]
chr3 GH03I184162 184162364 184163616 0.2 [{'connected_gene': 'VWA5B2', 'score': 19.6}, {'connected_gene': 'ABCF3', 'score': 12.31}, {'connected_gene': 'EIF2B5', 'score': 12.24}, {'connected_gene': 'CAMK2N2', 'score': 10.6}, {'connected_gene': 'ALG3', 'score': 10.56}, {'connected_gene': 'ECE2', 'score': 10.56}, {'connected_gene': 'EEF1AKMT4', 'score': 10.56}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 10.56}, {'connected_gene': 'MIR1224', 'score': 10.42}, {'connected_gene': 'EIF4G1', 'score': 10.29}, {'connected_gene': 'SNORD66', 'score': 10.29}, {'connected_gene': 'PSMD2', 'score': 10.09}, {'connected_gene': 'PARL', 'score': 9.84}, {'connected_gene': 'RPSAP31', 'score': 9.84}, {'connected_gene': 'FAM131A', 'score': 9.0}, {'connected_gene': 'DVL3', 'score': 0.44}, {'connected_gene': 'AP2M1', 'score': 0.39}]
chr3 GH03I184192 184192560 184194621 0.31 [{'connected_gene': 'VWA5B2', 'score': 21.18}, {'connected_gene': 'ALG3', 'score': 11.49}, {'connected_gene': 'ECE2', 'score': 11.49}, {'connected_gene': 'EEF1AKMT4', 'score': 11.49}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 11.49}, {'connected_gene': 'MIR1224', 'score': 10.82}, {'connected_gene': 'CAMK2N2', 'score': 10.71}, {'connected_gene': 'ABCF3', 'score': 10.63}, {'connected_gene': 'PSMD2', 'score': 10.46}, {'connected_gene': 'HTR3C', 'score': 9.96}, {'connected_gene': 'HTR3E-AS1', 'score': 9.92}, {'connected_gene': 'EIF4G1', 'score': 9.72}, {'connected_gene': 'DVL3', 'score': 7.19}]
chr3 GH03I184160 184160073 184161642 0.96 [{'connected_gene': 'EIF2B5', 'score': 12.24}, {'connected_gene': 'ABCF3', 'score': 10.85}, {'connected_gene': 'CAMK2N2', 'score': 10.59}, {'connected_gene': 'ALG3', 'score': 10.56}, {'connected_gene': 'ECE2', 'score': 10.56}, {'connected_gene': 'EEF1AKMT4', 'score': 10.56}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 10.56}, {'connected_gene': 'VWA5B2', 'score': 10.44}, {'connected_gene': 'MIR1224', 'score': 10.41}, {'connected_gene': 'EIF4G1', 'score': 10.29}, {'connected_gene': 'SNORD66', 'score': 10.29}, {'connected_gene': 'PSMD2', 'score': 10.09}, {'connected_gene': 'PARL', 'score': 9.84}, {'connected_gene': 'RPSAP31', 'score': 9.84}, {'connected_gene': 'FAM131A', 'score': 9.01}, {'connected_gene': 'DVL3', 'score': 0.44}, {'connected_gene': 'AP2M1', 'score': 0.39}]
chr3 GH03I184351 184351446 184353074 0.69 [{'connected_gene': 'SNORD66', 'score': 12.36}, {'connected_gene': 'EIF4G1', 'score': 12.32}, {'connected_gene': 'ALG3', 'score': 10.31}, {'connected_gene': 'CAMK2N2', 'score': 10.3}, {'connected_gene': 'EIF2B5', 'score': 9.82}, {'connected_gene': 'MIR1224', 'score': 9.48}, {'connected_gene': 'VWA5B2', 'score': 9.47}, {'connected_gene': 'ABCF3', 'score': 5.98}, {'connected_gene': 'PSMD2', 'score': 4.68}, {'connected_gene': 'PIR35526', 'score': 0.77}, {'connected_gene': 'GC03M184355', 'score': 0.77}, {'connected_gene': 'GC03P184344', 'score': 0.44}, {'connected_gene': 'CLCN2', 'score': 0.44}]
chr3 GH03I183880 183880001 183880600 0.2 [{'connected_gene': 'PARL', 'score': 13.28}, {'connected_gene': 'ABCC5', 'score': 10.4}, {'connected_gene': 'MAP6D1', 'score': 10.31}, {'connected_gene': 'ALG3', 'score': 9.69}, {'connected_gene': 'ECE2', 'score': 9.69}, {'connected_gene': 'EEF1AKMT4', 'score': 9.69}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 9.69}, {'connected_gene': 'MIR1224', 'score': 9.63}, {'connected_gene': 'VWA5B2', 'score': 9.63}, {'connected_gene': 'CAMK2N2', 'score': 9.6}, {'connected_gene': 'EIF2B5', 'score': 9.51}, {'connected_gene': 'FAM131A', 'score': 8.82}, {'connected_gene': 'EIF4G1', 'score': 8.82}, {'connected_gene': 'ENSG00000283765', 'score': 0.77}]
chr3 GH03I183876 183876833 183878800 0.91 [{'connected_gene': 'PARL', 'score': 23.35}, {'connected_gene': 'ABCC5', 'score': 10.39}, {'connected_gene': 'MAP6D1', 'score': 10.31}, {'connected_gene': 'ALG3', 'score': 9.69}, {'connected_gene': 'ECE2', 'score': 9.69}, {'connected_gene': 'EEF1AKMT4', 'score': 9.69}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 9.69}, {'connected_gene': 'MIR1224', 'score': 9.63}, {'connected_gene': 'VWA5B2', 'score': 9.63}, {'connected_gene': 'CAMK2N2', 'score': 9.6}, {'connected_gene': 'EIF2B5', 'score': 9.51}, {'connected_gene': 'FAM131A', 'score': 8.82}, {'connected_gene': 'EIF4G1', 'score': 8.82}, {'connected_gene': 'ENSG00000283765', 'score': 0.44}]
chr3 GH03I184184 184184280 184187914 2.27 [{'connected_gene': 'ABCF3', 'score': 562.78}, {'connected_gene': 'VWA5B2', 'score': 21.22}, {'connected_gene': 'POLR2H', 'score': 13.96}, {'connected_gene': 'EIF2B5', 'score': 10.89}, {'connected_gene': 'ALG3', 'score': 10.76}, {'connected_gene': 'ECE2', 'score': 10.76}, {'connected_gene': 'EEF1AKMT4', 'score': 10.76}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 10.76}, {'connected_gene': 'MIR1224', 'score': 10.67}, {'connected_gene': 'CAMK2N2', 'score': 10.56}, {'connected_gene': 'PSMD2', 'score': 10.4}, {'connected_gene': 'EIF4G1', 'score': 10.27}, {'connected_gene': 'DVL3', 'score': 7.36}]
chr3 GH03I184149 184149801 184150200 0.43 [{'connected_gene': 'RPS3P3', 'score': 550.77}, {'connected_gene': 'AP2M1', 'score': 11.36}, {'connected_gene': 'CAMK2N2', 'score': 10.78}, {'connected_gene': 'VWA5B2', 'score': 10.45}, {'connected_gene': 'ALG3', 'score': 10.3}, {'connected_gene': 'ECE2', 'score': 10.3}, {'connected_gene': 'EEF1AKMT4', 'score': 10.3}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 10.3}, {'connected_gene': 'MIR1224', 'score': 10.09}, {'connected_gene': 'PARL', 'score': 9.65}, {'connected_gene': 'RPSAP31', 'score': 9.65}, {'connected_gene': 'DVL3', 'score': 0.44}]
chr3 GH03I184154 184154314 184158479 2.18 [{'connected_gene': 'DVL3', 'score': 569.57}, {'connected_gene': 'EIF2B5', 'score': 22.29}, {'connected_gene': 'RPS3P3', 'score': 12.65}, {'connected_gene': 'POLR2H', 'score': 11.15}, {'connected_gene': 'ECE2', 'score': 10.63}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 10.63}, {'connected_gene': 'ALG3', 'score': 10.63}, {'connected_gene': 'EEF1AKMT4', 'score': 10.63}, {'connected_gene': 'ABCF3', 'score': 10.59}, {'connected_gene': 'CAMK2N2', 'score': 10.59}, {'connected_gene': 'PSMD2', 'score': 10.5}, {'connected_gene': 'VWA5B2', 'score': 10.44}, {'connected_gene': 'MIR1224', 'score': 10.42}, {'connected_gene': 'EIF4G1', 'score': 10.29}, {'connected_gene': 'SNORD66', 'score': 10.29}, {'connected_gene': 'HTR3C', 'score': 10.17}, {'connected_gene': 'HTR3E-AS1', 'score': 10.09}, {'connected_gene': 'FAM131A', 'score': 10.06}, {'connected_gene': 'PARL', 'score': 9.84}, {'connected_gene': 'RPSAP31', 'score': 9.84}, {'connected_gene': 'AP2M1', 'score': 0.37}]
chr3 GH03I184171 184171161 184179162 2.44 [{'connected_gene': 'AP2M1', 'score': 555.19}, {'connected_gene': 'VWA5B2', 'score': 20.35}, {'connected_gene': 'ABCF3', 'score': 13.46}, {'connected_gene': 'EIF2B5', 'score': 11.33}, {'connected_gene': 'DVL3', 'score': 10.88}, {'connected_gene': 'ALG3', 'score': 10.54}, {'connected_gene': 'ECE2', 'score': 10.54}, {'connected_gene': 'EEF1AKMT4', 'score': 10.54}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 10.54}, {'connected_gene': 'MIR1224', 'score': 10.39}, {'connected_gene': 'CAMK2N2', 'score': 10.37}]
chr3 GH03I184247 184247994 184250656 2.09 [{'connected_gene': 'ALG3', 'score': 550.77}, {'connected_gene': 'ECE2', 'score': 550.77}, {'connected_gene': 'EEF1AKMT4', 'score': 550.77}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 550.77}, {'connected_gene': 'POLR2H', 'score': 19.63}, {'connected_gene': 'RPS3P3', 'score': 14.06}, {'connected_gene': 'PARL', 'score': 13.52}, {'connected_gene': 'VWA5B2', 'score': 13.46}, {'connected_gene': 'DVL3', 'score': 12.19}, {'connected_gene': 'EIF2B5', 'score': 10.25}, {'connected_gene': 'ABCF3', 'score': 10.23}, {'connected_gene': 'MIR1224', 'score': 0.44}]
chr3 GH03I184015 184015198 184018806 2.28 [{'connected_gene': 'ABCC5', 'score': 564.36}, {'connected_gene': 'YEATS2', 'score': 13.5}, {'connected_gene': 'HTR3C', 'score': 10.57}, {'connected_gene': 'EIF2B5', 'score': 9.98}, {'connected_gene': 'AP2M1', 'score': 9.97}, {'connected_gene': 'ALG3', 'score': 9.69}, {'connected_gene': 'CAMK2N2', 'score': 9.61}, {'connected_gene': 'ECE2', 'score': 9.4}, {'connected_gene': 'EEF1AKMT4', 'score': 9.4}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 9.4}, {'connected_gene': 'ABCC5-AS1', 'score': 0.39}]
chr3 GH03I184022 184022046 184023000 0.82 [{'connected_gene': 'ABCC5', 'score': 18.49}, {'connected_gene': 'HTR3C', 'score': 12.07}, {'connected_gene': 'PARL', 'score': 10.76}, {'connected_gene': 'RPSAP31', 'score': 10.76}, {'connected_gene': 'EIF2B5', 'score': 10.52}, {'connected_gene': 'CAMK2N2', 'score': 9.98}, {'connected_gene': 'ALG3', 'score': 9.69}, {'connected_gene': 'ECE2', 'score': 9.39}, {'connected_gene': 'EEF1AKMT4', 'score': 9.39}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 9.39}, {'connected_gene': 'PSMD2', 'score': 6.04}, {'connected_gene': 'KLHL6', 'score': 4.22}, {'connected_gene': 'FAM131A', 'score': 2.48}, {'connected_gene': 'PIR46451', 'score': 0.44}]
chr3 GH03I183975 183975770 183978485 0.97 [{'connected_gene': 'ABCC5', 'score': 21.64}, {'connected_gene': 'HTR3C', 'score': 10.62}, {'connected_gene': 'PARL', 'score': 10.56}, {'connected_gene': 'RPSAP31', 'score': 10.56}, {'connected_gene': 'HTR3E-AS1', 'score': 10.29}, {'connected_gene': 'EIF2B5', 'score': 10.19}, {'connected_gene': 'EIF4G1', 'score': 9.98}, {'connected_gene': 'FAM131A', 'score': 9.98}, {'connected_gene': 'VWA5B2', 'score': 9.98}, {'connected_gene': 'CAMK2N2', 'score': 9.86}, {'connected_gene': 'PSMD2', 'score': 9.54}, {'connected_gene': 'ECE2', 'score': 9.52}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 9.52}, {'connected_gene': 'ALG3', 'score': 9.52}, {'connected_gene': 'EEF1AKMT4', 'score': 9.52}, {'connected_gene': 'MIR1224', 'score': 9.51}, {'connected_gene': 'ABCC5-AS1', 'score': 0.31}, {'connected_gene': 'PIR62380', 'score': 0.22}]
chr3 GH03I184209 184209480 184210004 0.31 [{'connected_gene': 'MIR1224', 'score': 11.12}, {'connected_gene': 'ALG3', 'score': 11.1}, {'connected_gene': 'ECE2', 'score': 10.81}, {'connected_gene': 'EEF1AKMT4', 'score': 10.81}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 10.81}, {'connected_gene': 'CAMK2N2', 'score': 10.8}, {'connected_gene': 'AP2M1', 'score': 10.73}, {'connected_gene': 'PSMD2', 'score': 10.56}, {'connected_gene': 'EIF2B5', 'score': 10.39}, {'connected_gene': 'PARL', 'score': 10.26}, {'connected_gene': 'RPSAP31', 'score': 10.26}, {'connected_gene': 'EIF4G1', 'score': 10.13}, {'connected_gene': 'VWA5B2', 'score': 0.37}, {'connected_gene': 'ABCF3', 'score': 0.34}]

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