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
ENST00000354293 [[50270224, 50270457], [50285013, 50285082], [50285203, 50285346], [50285787, 50285981], [50295191, 50295321], [50296247, 50296349], [50298886, 50298995], [50302058, 50302209], [50302583, 50302752], [50302885, 50303023], [50303224, 50303407], [50304217, 50304315], [50304646, 50304878], [50304978, 50305146], [50305237, 50305398], [50306205, 50306262], [50306363, 50306446], [50306543, 50306633], [50308709, 50308833], [50308917, 50309034], [50309128, 50309198], [50309375, 50309510], [50309937, 50310369]] [[50270390, 50270457], [50285013, 50285082], [50285203, 50285346], [50285787, 50285981], [50295191, 50295321], [50296247, 50296349], [50298886, 50298995], [50302058, 50302209], [50302583, 50302752], [50302885, 50303023], [50303224, 50303407], [50304217, 50304315], [50304646, 50304878], [50304978, 50305146], [50305237, 50305398], [50306205, 50306262], [50306363, 50306446], [50306543, 50306633], [50308709, 50308833], [50308917, 50309034], [50309128, 50309198], [50309375, 50309510], [50309937, 50310015]]
ENST00000600199 [[50270263, 50270457], [50285013, 50285082], [50285203, 50285346], [50285787, 50285981], [50295191, 50295321], [50296247, 50296349], [50298886, 50298975], [50299359, 50300819]] None
ENST00000359032 [[50270390, 50270457], [50285013, 50285082], [50285203, 50285346], [50285787, 50285981], [50295191, 50295321], [50296247, 50296349], [50298886, 50298995], [50302058, 50302209], [50302583, 50302752], [50302885, 50303023], [50303224, 50303407], [50304217, 50304315], [50304646, 50304878], [50304978, 50305146], [50305237, 50305398], [50305790, 50305856], [50306205, 50306262], [50306363, 50306446], [50306543, 50306633], [50308709, 50308833], [50308917, 50309034], [50309128, 50309198], [50309375, 50309510], [50309937, 50310367]] [[50270390, 50270457], [50285013, 50285082], [50285203, 50285346], [50285787, 50285981], [50295191, 50295321], [50296247, 50296349], [50298886, 50298995], [50302058, 50302209], [50302583, 50302752], [50302885, 50303023], [50303224, 50303407], [50304217, 50304315], [50304646, 50304878], [50304978, 50305146], [50305237, 50305398], [50305790, 50305856], [50306205, 50306262], [50306363, 50306446], [50306543, 50306633], [50308709, 50308833], [50308917, 50309034], [50309128, 50309198], [50309375, 50309510], [50309937, 50310015]]
ENST00000597774 [[50270392, 50270457], [50285013, 50285082], [50285203, 50285227], [50296292, 50296349], [50298886, 50298995], [50302058, 50302209], [50302583, 50302752], [50302885, 50303023], [50303224, 50303274], [50303353, 50303407], [50304217, 50304256], [50304659, 50304878], [50304978, 50305146], [50305237, 50305398], [50306205, 50306262], [50306363, 50306446], [50306543, 50306633], [50308709, 50308833], [50308981, 50309034], [50309128, 50309198], [50309375, 50309510], [50309937, 50310048]] [[50270392, 50270457], [50285013, 50285082], [50285203, 50285227], [50296292, 50296306]]
ENST00000593788 [[50303948, 50304315], [50304646, 50304878], [50304978, 50304990]] None
ENST00000600466 [[50304803, 50305146], [50305237, 50307797]] None
ENST00000594838 [[50305778, 50305856], [50306205, 50306262], [50306363, 50306446], [50306543, 50306633], [50308709, 50308833], [50308917, 50309034], [50309128, 50309190]] None
ENST00000601356 [[50308132, 50310370]] None
NM_130787 [[50270179, 50270457], [50285013, 50285082], [50285203, 50285346], [50285787, 50285981], [50295191, 50295321], [50296247, 50296349], [50298886, 50298995], [50302058, 50302209], [50302583, 50302752], [50302885, 50303023], [50303224, 50303407], [50304217, 50304315], [50304646, 50304878], [50304978, 50305146], [50305237, 50305398], [50306205, 50306262], [50306363, 50306446], [50306543, 50306633], [50308709, 50308833], [50308917, 50309034], [50309128, 50309198], [50309375, 50309510], [50309937, 50310369]] [[50270390, 50270457], [50285013, 50285082], [50285203, 50285346], [50285787, 50285981], [50295191, 50295321], [50296247, 50296349], [50298886, 50298995], [50302058, 50302209], [50302583, 50302752], [50302885, 50303023], [50303224, 50303407], [50304217, 50304315], [50304646, 50304878], [50304978, 50305146], [50305237, 50305398], [50306205, 50306262], [50306363, 50306446], [50306543, 50306633], [50308709, 50308833], [50308917, 50309034], [50309128, 50309198], [50309375, 50309510], [50309937, 50310015]]
NM_014203 [[50270179, 50270457], [50285013, 50285082], [50285203, 50285346], [50285787, 50285981], [50295191, 50295321], [50296247, 50296349], [50298886, 50298995], [50302058, 50302209], [50302583, 50302752], [50302885, 50303023], [50303224, 50303407], [50304217, 50304315], [50304646, 50304878], [50304978, 50305146], [50305237, 50305398], [50305790, 50305856], [50306205, 50306262], [50306363, 50306446], [50306543, 50306633], [50308709, 50308833], [50308917, 50309034], [50309128, 50309198], [50309375, 50309510], [50309937, 50310369]] [[50270390, 50270457], [50285013, 50285082], [50285203, 50285346], [50285787, 50285981], [50295191, 50295321], [50296247, 50296349], [50298886, 50298995], [50302058, 50302209], [50302583, 50302752], [50302885, 50303023], [50303224, 50303407], [50304217, 50304315], [50304646, 50304878], [50304978, 50305146], [50305237, 50305398], [50305790, 50305856], [50306205, 50306262], [50306363, 50306446], [50306543, 50306633], [50308709, 50308833], [50308917, 50309034], [50309128, 50309198], [50309375, 50309510], [50309937, 50310015]]
Promoter
Chrom Start End Description
chr19 50270168 50270179 CAGE_peak_5_at_AP2A1_5end
chr19 50270219 50270319 CAGE_peak_1_at_AP2A1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I049773 49773073 49774463 1.33 [{'connected_gene': 'AKT1S1', 'score': 11.37}, {'connected_gene': 'PRR12', 'score': 11.17}, {'connected_gene': 'NUP62', 'score': 10.48}, {'connected_gene': 'MED25', 'score': 8.67}, {'connected_gene': 'TSKS', 'score': 8.47}, {'connected_gene': 'AP2A1', 'score': 6.98}, {'connected_gene': 'VRK3', 'score': 1.77}, {'connected_gene': 'BCL2L12', 'score': 1.52}, {'connected_gene': 'MIR6799', 'score': 0.37}]
chr19 GH19I049816 49816268 49821222 2.55 [{'connected_gene': 'FUZ', 'score': 561.55}, {'connected_gene': 'MED25', 'score': 559.52}, {'connected_gene': 'PRR12', 'score': 33.42}, {'connected_gene': 'PTOV1-AS2', 'score': 23.76}, {'connected_gene': 'PNKP', 'score': 23.68}, {'connected_gene': 'PTOV1', 'score': 22.59}, {'connected_gene': 'SNRNP70', 'score': 20.42}, {'connected_gene': 'PIH1D1', 'score': 18.62}, {'connected_gene': 'POLD1', 'score': 15.99}, {'connected_gene': 'NUP62', 'score': 13.8}, {'connected_gene': 'SNORD35A', 'score': 13.24}, {'connected_gene': 'RNU6-841P', 'score': 11.77}, {'connected_gene': 'AP2A1', 'score': 11.77}, {'connected_gene': 'TSKS', 'score': 11.76}, {'connected_gene': 'SNORD35B', 'score': 11.27}, {'connected_gene': 'PRMT1', 'score': 11.22}, {'connected_gene': 'ALDH16A1', 'score': 9.93}, {'connected_gene': 'SCAF1', 'score': 9.92}, {'connected_gene': 'PTOV1-AS1', 'score': 7.55}, {'connected_gene': 'ATF5', 'score': 4.71}, {'connected_gene': 'NTF4', 'score': 4.34}, {'connected_gene': 'MIR6800', 'score': 0.39}]
chr19 GH19I049812 49812166 49814985 2.41 [{'connected_gene': 'FUZ', 'score': 560.69}, {'connected_gene': 'PRMT1', 'score': 22.22}, {'connected_gene': 'PTOV1', 'score': 13.15}, {'connected_gene': 'CPT1C', 'score': 11.07}, {'connected_gene': 'ADM5', 'score': 11.07}, {'connected_gene': 'TSKS', 'score': 10.44}, {'connected_gene': 'AP2A1', 'score': 10.03}, {'connected_gene': 'PTOV1-AS2', 'score': 8.97}, {'connected_gene': 'PTOV1-AS1', 'score': 8.3}, {'connected_gene': 'PTH2', 'score': 2.28}, {'connected_gene': 'LOC105372435', 'score': 0.77}]
chr19 GH19I049775 49775224 49776862 1.07 [{'connected_gene': 'FUZ', 'score': 8.63}, {'connected_gene': 'AP2A1', 'score': 6.62}, {'connected_gene': 'MIR6799', 'score': 0.37}]
chr19 GH19I049637 49637475 49643832 2.61 [{'connected_gene': 'RRAS', 'score': 552.96}, {'connected_gene': 'SCAF1', 'score': 550.77}, {'connected_gene': 'PTOV1-AS2', 'score': 29.6}, {'connected_gene': 'POLD1', 'score': 28.92}, {'connected_gene': 'PRR12', 'score': 28.47}, {'connected_gene': 'SNORD35A', 'score': 28.26}, {'connected_gene': 'NUP62', 'score': 26.63}, {'connected_gene': 'ALDH16A1', 'score': 26.57}, {'connected_gene': 'SNORD35B', 'score': 25.96}, {'connected_gene': 'IRF3', 'score': 25.82}, {'connected_gene': 'PNKP', 'score': 25.82}, {'connected_gene': 'SNRNP70', 'score': 21.92}, {'connected_gene': 'PIH1D1', 'score': 18.74}, {'connected_gene': 'RPL13A', 'score': 14.75}, {'connected_gene': 'RPS11', 'score': 13.2}, {'connected_gene': 'PRMT1', 'score': 11.05}, {'connected_gene': 'ADM5', 'score': 11.02}, {'connected_gene': 'CPT1C', 'score': 11.0}, {'connected_gene': 'BCAT2', 'score': 10.95}, {'connected_gene': 'BAX', 'score': 10.64}, {'connected_gene': 'RASIP1', 'score': 9.69}, {'connected_gene': 'RCN3', 'score': 2.68}, {'connected_gene': 'AP2A1', 'score': 1.71}, {'connected_gene': 'TRPM4', 'score': 1.45}, {'connected_gene': 'AKT1S1', 'score': 1.32}, {'connected_gene': 'BCL2L12', 'score': 0.34}]
chr19 GH19I049794 49794092 49794580 0.38 [{'connected_gene': 'TSKS', 'score': 6.14}, {'connected_gene': 'PTOV1-AS2', 'score': 5.77}, {'connected_gene': 'MIR6799', 'score': 0.77}, {'connected_gene': 'PIR61442', 'score': 0.39}, {'connected_gene': 'AP2A1', 'score': 0.31}]
chr19 GH19I049785 49785932 49787169 0.76 [{'connected_gene': 'AP2A1', 'score': 14.02}, {'connected_gene': 'TSKS', 'score': 6.59}, {'connected_gene': 'MIR6799', 'score': 0.44}]
chr19 GH19I049771 49771360 49772178 0.78 [{'connected_gene': 'AP2A1', 'score': 10.59}, {'connected_gene': 'TSKS', 'score': 9.35}, {'connected_gene': 'MIR6799', 'score': 0.34}]
chr19 GH19I049788 49788169 49789203 0.52 [{'connected_gene': 'AP2A1', 'score': 9.25}, {'connected_gene': 'TSKS', 'score': 6.54}, {'connected_gene': 'MIR6799', 'score': 0.77}]
chr19 GH19I049764 49764801 49768725 2.28 [{'connected_gene': 'AP2A1', 'score': 559.43}, {'connected_gene': 'NUP62', 'score': 58.23}, {'connected_gene': 'POLD1', 'score': 45.75}, {'connected_gene': 'IRF3', 'score': 41.71}, {'connected_gene': 'SNORD35A', 'score': 41.01}, {'connected_gene': 'SNORD35B', 'score': 40.05}, {'connected_gene': 'ALDH16A1', 'score': 39.1}, {'connected_gene': 'RPS11', 'score': 34.9}, {'connected_gene': 'RPL13A', 'score': 33.62}, {'connected_gene': 'PIH1D1', 'score': 32.26}, {'connected_gene': 'PTOV1-AS2', 'score': 31.86}, {'connected_gene': 'PNKP', 'score': 30.84}, {'connected_gene': 'SNRNP70', 'score': 24.46}, {'connected_gene': 'PRR12', 'score': 22.11}, {'connected_gene': 'ENSG00000268047', 'score': 15.54}, {'connected_gene': 'TSKS', 'score': 15.26}, {'connected_gene': 'ZNF473', 'score': 14.24}, {'connected_gene': 'VRK3', 'score': 12.26}, {'connected_gene': 'NOSIP', 'score': 11.42}, {'connected_gene': 'BAX', 'score': 11.31}, {'connected_gene': 'AKT1S1', 'score': 11.23}, {'connected_gene': 'RUVBL2', 'score': 11.11}, {'connected_gene': 'BCAT2', 'score': 10.95}, {'connected_gene': 'DKKL1', 'score': 10.86}, {'connected_gene': 'PRMT1', 'score': 10.58}, {'connected_gene': 'SLC6A16', 'score': 10.1}, {'connected_gene': 'FLT3LG', 'score': 9.95}, {'connected_gene': 'RNU6-841P', 'score': 0.77}, {'connected_gene': 'GC19M049766', 'score': 0.77}]
chr19 GH19I049769 49769139 49769839 0.38 [{'connected_gene': 'AP2A1', 'score': 0.77}, {'connected_gene': 'MIR6799', 'score': 0.34}]
chr19 GH19I049779 49779762 49782200 0.69 [{'connected_gene': 'AP2A1', 'score': 8.3}, {'connected_gene': 'MIR6799', 'score': 0.39}]
chr19 GH19I049741 49741601 49741800 0.49 [{'connected_gene': 'CPT1C', 'score': 12.73}, {'connected_gene': 'ADM5', 'score': 12.73}, {'connected_gene': 'PRMT1', 'score': 12.7}, {'connected_gene': 'TSKS', 'score': 12.22}, {'connected_gene': 'RNU6-841P', 'score': 12.22}, {'connected_gene': 'AP2A1', 'score': 12.19}, {'connected_gene': 'SCAF1', 'score': 10.27}, {'connected_gene': 'RRAS', 'score': 10.27}, {'connected_gene': 'LOC105372434', 'score': 0.44}, {'connected_gene': 'RPS9P4', 'score': 0.34}]
chr19 GH19I049804 49804996 49810473 1.82 [{'connected_gene': 'LOC105372435', 'score': 564.96}, {'connected_gene': 'PIR61442', 'score': 550.77}, {'connected_gene': 'PRR12', 'score': 14.12}, {'connected_gene': 'RPS11', 'score': 13.02}, {'connected_gene': 'SNORD35A', 'score': 12.36}, {'connected_gene': 'RPL13A', 'score': 12.28}, {'connected_gene': 'PIH1D1', 'score': 11.94}, {'connected_gene': 'SNORD35B', 'score': 10.19}, {'connected_gene': 'FUZ', 'score': 10.15}, {'connected_gene': 'ALDH16A1', 'score': 10.13}, {'connected_gene': 'IRF3', 'score': 10.02}, {'connected_gene': 'AP2A1', 'score': 10.01}, {'connected_gene': 'SNRNP70', 'score': 9.78}, {'connected_gene': 'PTOV1-AS2', 'score': 8.61}]
chr19 GH19I049801 49801297 49803222 1.18 [{'connected_gene': 'LOC105372435', 'score': 14.68}, {'connected_gene': 'TRPM4', 'score': 12.59}, {'connected_gene': 'AP2A1', 'score': 10.59}, {'connected_gene': 'AKT1S1', 'score': 10.05}, {'connected_gene': 'PIR61442', 'score': 0.44}, {'connected_gene': 'MIR6799', 'score': 0.39}]
chr19 GH19I049790 49790153 49792100 0.72 [{'connected_gene': 'MIR6799', 'score': 550.77}, {'connected_gene': 'TSKS', 'score': 12.71}, {'connected_gene': 'AP2A1', 'score': 9.3}, {'connected_gene': 'LOC105372435', 'score': 6.93}]
chr19 GH19I049792 49792756 49793943 0.91 [{'connected_gene': 'MIR6799', 'score': 550.77}, {'connected_gene': 'TSKS', 'score': 6.25}, {'connected_gene': 'PIR61442', 'score': 0.39}, {'connected_gene': 'AP2A1', 'score': 0.31}]
chr19 GH19I049799 49799864 49800013 0.46 [{'connected_gene': 'MIR6799', 'score': 0.44}, {'connected_gene': 'PIR61442', 'score': 0.44}, {'connected_gene': 'AP2A1', 'score': 0.29}]
chr19 GH19I049420 49420842 49421313 1 [{'connected_gene': 'GFY', 'score': 550.77}, {'connected_gene': 'RRAS', 'score': 3.44}, {'connected_gene': 'AP2A1', 'score': 2.33}, {'connected_gene': 'NOSIP', 'score': 1.88}, {'connected_gene': 'RCN3', 'score': 1.76}, {'connected_gene': 'PRR12', 'score': 1.27}, {'connected_gene': 'TBC1D17', 'score': 1.23}, {'connected_gene': 'LOC105372433', 'score': 0.77}]

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