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
ENST00000200453 [[49375648, 49375908], [49376481, 49378155], [49378870, 49379314]] [[49376490, 49378155], [49378870, 49379230]]
ENST00000600406 [[49377574, 49379299]] [[49377574, 49378350]]
NM_014330 [[49375648, 49375908], [49376481, 49378155], [49378870, 49379319]] [[49376490, 49378155], [49378870, 49379230]]
Promoter
Chrom Start End Description
chr19 49375669 49375684 CAGE_peak_1_at_PPP1R15A_5end
chr19 49376066 49376081 CAGE_peak_20_at_PPP1R15A_5end
chr19 49376379 49376428 CAGE_peak_3_at_PPP1R15A_5end
chr19 49376460 49376496 CAGE_peak_2_at_PPP1R15A_5end
chr19 49376498 49376515 CAGE_peak_8_at_PPP1R15A_5end
chr19 49376534 49376567 CAGE_peak_6_at_PPP1R15A_5end
chr19 49376598 49376619 CAGE_peak_5_at_PPP1R15A_5end
chr19 49376669 49376682 CAGE_peak_7_at_PPP1R15A_5end
chr19 49376692 49376708 CAGE_peak_13_at_PPP1R15A_5end
chr19 49376712 49376724 CAGE_peak_10_at_PPP1R15A_5end
chr19 49376732 49376745 CAGE_peak_12_at_PPP1R15A_5end
chr19 49376775 49376798 CAGE_peak_4_at_PPP1R15A_5end
chr19 49376811 49376829 CAGE_peak_9_at_PPP1R15A_5end
chr19 49376852 49376863 CAGE_peak_11_at_PPP1R15A_5end
chr19 49376904 49376912 CAGE_peak_16_at_PPP1R15A_5end
chr19 49376966 49376978 CAGE_peak_15_at_PPP1R15A_5end
chr19 49376985 49376996 CAGE_peak_17_at_PPP1R15A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I049207 49207630 49209033 1.34 [{'connected_gene': 'SNRNP70', 'score': 24.19}, {'connected_gene': 'PPP1R15A', 'score': 14.86}, {'connected_gene': 'PRR12', 'score': 13.31}, {'connected_gene': 'CD37', 'score': 12.73}, {'connected_gene': 'C19orf73', 'score': 11.51}, {'connected_gene': 'PPFIA3', 'score': 11.51}, {'connected_gene': 'LIN7B', 'score': 11.51}, {'connected_gene': 'CGB7', 'score': 11.28}, {'connected_gene': 'NTF4', 'score': 11.28}, {'connected_gene': 'SLC6A16', 'score': 11.2}, {'connected_gene': 'KCNA7', 'score': 10.89}, {'connected_gene': 'CCDC155', 'score': 10.8}, {'connected_gene': 'SLC17A7', 'score': 10.7}, {'connected_gene': 'GRWD1', 'score': 10.09}, {'connected_gene': 'PIH1D1', 'score': 9.78}, {'connected_gene': 'RASIP1', 'score': 9.7}, {'connected_gene': 'IZUMO1', 'score': 3.62}, {'connected_gene': 'FCGRT', 'score': 2.38}, {'connected_gene': 'RPS11', 'score': 1.47}, {'connected_gene': 'SLC6A21P', 'score': 0.25}, {'connected_gene': 'TRPM4', 'score': 0.23}]
chr19 GH19I048844 48844544 48844733 0.66 [{'connected_gene': 'PLEKHA4', 'score': 12.18}, {'connected_gene': 'PPP1R15A', 'score': 12.15}, {'connected_gene': 'TULP2', 'score': 12.06}, {'connected_gene': 'BCAT2', 'score': 11.86}, {'connected_gene': 'NUCB1', 'score': 11.16}, {'connected_gene': 'NUCB1-AS1', 'score': 11.13}, {'connected_gene': 'CGB7', 'score': 10.0}, {'connected_gene': 'NTF4', 'score': 10.0}, {'connected_gene': 'GC19P048839', 'score': 0.44}, {'connected_gene': 'GC19P048838', 'score': 0.44}]
chr19 GH19I048856 48856894 48858683 0.77 [{'connected_gene': 'HSD17B14', 'score': 26.21}, {'connected_gene': 'NUCB1', 'score': 9.41}, {'connected_gene': 'PPP1R15A', 'score': 5.45}, {'connected_gene': 'PLEKHA4', 'score': 0.39}, {'connected_gene': 'GC19P048839', 'score': 0.34}, {'connected_gene': 'GC19P048838', 'score': 0.34}]
chr19 GH19I048898 48898353 48902130 2.04 [{'connected_gene': 'NUCB1', 'score': 571.47}, {'connected_gene': 'TULP2', 'score': 567.62}, {'connected_gene': 'PPP1R15A', 'score': 12.25}, {'connected_gene': 'PLEKHA4', 'score': 12.24}, {'connected_gene': 'BAX', 'score': 11.83}, {'connected_gene': 'FTL', 'score': 11.33}, {'connected_gene': 'DBP', 'score': 9.43}, {'connected_gene': 'SEC1P', 'score': 9.43}, {'connected_gene': 'IRF3', 'score': 5.54}, {'connected_gene': 'NUCB1-AS1', 'score': 0.37}]
chr19 GH19I048958 48958905 48969153 2.91 [{'connected_gene': 'FTL', 'score': 552.4}, {'connected_gene': 'GC19P048967', 'score': 550.77}, {'connected_gene': 'ENSG00000267898', 'score': 550.77}, {'connected_gene': 'GC19P048966', 'score': 550.77}, {'connected_gene': 'NUP62', 'score': 82.3}, {'connected_gene': 'PTOV1-AS2', 'score': 59.3}, {'connected_gene': 'IRF3', 'score': 58.81}, {'connected_gene': 'PRR12', 'score': 55.41}, {'connected_gene': 'SNORD35A', 'score': 52.87}, {'connected_gene': 'SNORD35B', 'score': 52.19}, {'connected_gene': 'ALDH16A1', 'score': 47.83}, {'connected_gene': 'GRWD1', 'score': 46.86}, {'connected_gene': 'PIH1D1', 'score': 45.72}, {'connected_gene': 'PNKP', 'score': 43.31}, {'connected_gene': 'KDELR1', 'score': 31.64}, {'connected_gene': 'PPP1R15A', 'score': 26.55}, {'connected_gene': 'RUVBL2', 'score': 25.65}, {'connected_gene': 'RPS11', 'score': 23.61}, {'connected_gene': 'ENSG00000268047', 'score': 23.44}, {'connected_gene': 'RPL18', 'score': 22.56}, {'connected_gene': 'CPT1C', 'score': 21.16}, {'connected_gene': 'DKKL1', 'score': 20.95}, {'connected_gene': 'RPL13A', 'score': 20.8}, {'connected_gene': 'BAX', 'score': 20.63}, {'connected_gene': 'PTOV1', 'score': 18.63}, {'connected_gene': 'IZUMO1', 'score': 16.67}, {'connected_gene': 'ENSG00000268093', 'score': 15.43}, {'connected_gene': 'CA11', 'score': 14.74}, {'connected_gene': 'TSKS', 'score': 14.52}, {'connected_gene': 'SEC1P', 'score': 13.96}, {'connected_gene': 'ZSWIM9', 'score': 12.7}, {'connected_gene': 'NUCB1', 'score': 11.69}, {'connected_gene': 'TULP2', 'score': 11.69}, {'connected_gene': 'NUCB1-AS1', 'score': 11.55}, {'connected_gene': 'NOSIP', 'score': 11.36}, {'connected_gene': 'AKT1S1', 'score': 11.24}, {'connected_gene': 'BCAT2', 'score': 11.1}, {'connected_gene': 'GYS1', 'score': 11.08}, {'connected_gene': 'RASIP1', 'score': 10.66}, {'connected_gene': 'ADM5', 'score': 10.36}, {'connected_gene': 'HSD17B14', 'score': 10.33}, {'connected_gene': 'PRMT1', 'score': 10.25}, {'connected_gene': 'SLC6A16', 'score': 10.11}, {'connected_gene': 'LIG1', 'score': 10.11}, {'connected_gene': 'FLT3LG', 'score': 9.93}, {'connected_gene': 'CYTH2', 'score': 9.76}, {'connected_gene': 'DHDH', 'score': 5.28}, {'connected_gene': 'CD37', 'score': 3.53}]
chr19 GH19I048883 48883268 48883518 0.41 [{'connected_gene': 'PPP1R15A', 'score': 5.63}, {'connected_gene': 'CD37', 'score': 2.35}, {'connected_gene': 'GC19M048876', 'score': 0.44}, {'connected_gene': 'NUCB1', 'score': 0.37}, {'connected_gene': 'TULP2', 'score': 0.37}]
chr19 GH19I048395 48395557 48401881 1.55 [{'connected_gene': 'KDELR1', 'score': 572.99}, {'connected_gene': 'NOP53-AS1', 'score': 43.24}, {'connected_gene': 'GRWD1', 'score': 42.81}, {'connected_gene': 'BICRA', 'score': 42.43}, {'connected_gene': 'NOP53', 'score': 21.98}, {'connected_gene': 'CYTH2', 'score': 20.28}, {'connected_gene': 'SNORD23', 'score': 17.8}, {'connected_gene': 'ENSG00000268746', 'score': 13.12}, {'connected_gene': 'CCDC114', 'score': 12.37}, {'connected_gene': 'TEAD2', 'score': 12.15}, {'connected_gene': 'SNRNP70', 'score': 11.99}, {'connected_gene': 'EHD2', 'score': 11.96}, {'connected_gene': 'ENSG00000268157', 'score': 11.56}, {'connected_gene': 'GRIN2D', 'score': 11.18}, {'connected_gene': 'BAX', 'score': 11.03}, {'connected_gene': 'CARD8', 'score': 10.97}, {'connected_gene': 'PPP1R15A', 'score': 4.73}, {'connected_gene': 'CARD8-AS1', 'score': 4.56}, {'connected_gene': 'EMP3', 'score': 1.74}, {'connected_gene': 'FUT1', 'score': 1.46}, {'connected_gene': 'IZUMO1', 'score': 1.26}]
chr19 GH19I048924 48924610 48927999 1.25 [{'connected_gene': 'GC19M048923', 'score': 550.77}, {'connected_gene': 'ENSG00000260366', 'score': 550.77}, {'connected_gene': 'GC19P048927', 'score': 550.77}, {'connected_gene': 'NUCB1', 'score': 10.78}, {'connected_gene': 'PPP1R15A', 'score': 7.58}, {'connected_gene': 'IZUMO1', 'score': 2.83}, {'connected_gene': 'FTL', 'score': 2.52}]
chr19 GH19I048871 48871629 48880400 2.56 [{'connected_gene': 'GC19M048876', 'score': 550.77}, {'connected_gene': 'PPP1R15A', 'score': 550.77}, {'connected_gene': 'PRR12', 'score': 70.8}, {'connected_gene': 'SNRNP70', 'score': 62.44}, {'connected_gene': 'IRF3', 'score': 62.06}, {'connected_gene': 'GRWD1', 'score': 54.19}, {'connected_gene': 'SNORD35A', 'score': 53.77}, {'connected_gene': 'PTOV1-AS2', 'score': 53.62}, {'connected_gene': 'SNORD35B', 'score': 52.11}, {'connected_gene': 'PIH1D1', 'score': 49.4}, {'connected_gene': 'ALDH16A1', 'score': 47.81}, {'connected_gene': 'KDELR1', 'score': 40.48}, {'connected_gene': 'RPS11', 'score': 32.41}, {'connected_gene': 'RPL18', 'score': 31.34}, {'connected_gene': 'RPL13A', 'score': 29.35}, {'connected_gene': 'CYTH2', 'score': 29.26}, {'connected_gene': 'ENSG00000268047', 'score': 27.13}, {'connected_gene': 'FLT3LG', 'score': 21.96}, {'connected_gene': 'PTOV1', 'score': 20.32}, {'connected_gene': 'TULP2', 'score': 17.69}, {'connected_gene': 'HSD17B14', 'score': 17.67}, {'connected_gene': 'CPT1C', 'score': 15.07}, {'connected_gene': 'DKKL1', 'score': 11.85}, {'connected_gene': 'BAX', 'score': 11.47}, {'connected_gene': 'NUCB1', 'score': 11.02}, {'connected_gene': 'SCAF1', 'score': 10.89}, {'connected_gene': 'BCAT2', 'score': 10.27}, {'connected_gene': 'PRMT1', 'score': 10.25}, {'connected_gene': 'LIG1', 'score': 10.11}, {'connected_gene': 'FCGRT', 'score': 10.09}, {'connected_gene': 'SEC1P', 'score': 9.95}, {'connected_gene': 'ADM5', 'score': 9.87}, {'connected_gene': 'RASIP1', 'score': 9.78}]

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