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
ENST00000301887 [[64755414, 64757284], [64761919, 64762021], [64764347, 64764517]] [[64756600, 64757284], [64761919, 64762021], [64764347, 64764386]]
ENST00000435842 [[64755416, 64757284], [64757664, 64757745]] [[64756600, 64757170]]
ENST00000527454 [[64755417, 64757986]] None
ENST00000527716 [[64756255, 64757284], [64757545, 64757746]] [[64756600, 64757284], [64757545, 64757614]]
ENST00000534177 [[64756957, 64757281], [64761919, 64762021], [64764347, 64764490]] [[64756957, 64757281], [64761919, 64762021], [64764347, 64764386]]
NM_001300807 [[64755416, 64757284], [64757545, 64757749]] [[64756600, 64757284], [64757545, 64757614]]
NM_001300808 [[64755416, 64757284], [64757664, 64757749]] [[64756600, 64757170]]
NM_138456 [[64755416, 64757284], [64761919, 64762021], [64764347, 64764517]] [[64756600, 64757284], [64761919, 64762021], [64764347, 64764386]]
Promoter
Chrom Start End Description
chr11 64764402 64764413 CAGE_peak_2_at_BATF2_5end
chr11 64764435 64764449 CAGE_peak_1_at_BATF2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I064659 64659028 64662010 1.54 [{'connected_gene': 'NRXN2', 'score': 26.21}, {'connected_gene': 'BATF2', 'score': 7.28}, {'connected_gene': 'ENSG00000237410', 'score': 0.39}]
chr11 GH11I065006 65006271 65008643 0.96 [{'connected_gene': 'ARL2', 'score': 13.69}, {'connected_gene': 'EEF1A1P18', 'score': 6.27}, {'connected_gene': 'EHBP1L1', 'score': 5.21}, {'connected_gene': 'BATF2', 'score': 0.44}, {'connected_gene': 'ARL2-SNX15', 'score': 0.44}]
chr11 GH11I065414 65414759 65433603 2.43 [{'connected_gene': 'NEAT1', 'score': 621.1}, {'connected_gene': 'ENSG00000278050', 'score': 550.77}, {'connected_gene': 'ENSG00000278144', 'score': 550.77}, {'connected_gene': 'ENSG00000277599', 'score': 550.77}, {'connected_gene': 'GC11P065529', 'score': 550.77}, {'connected_gene': 'SF1', 'score': 122.53}, {'connected_gene': 'ZFPL1', 'score': 104.38}, {'connected_gene': 'EIF1AD', 'score': 100.29}, {'connected_gene': 'POLA2', 'score': 94.05}, {'connected_gene': 'PCNX3', 'score': 92.79}, {'connected_gene': 'LOC105369352', 'score': 88.99}, {'connected_gene': 'MUS81', 'score': 79.86}, {'connected_gene': 'KAT5', 'score': 78.49}, {'connected_gene': 'SART1', 'score': 75.75}, {'connected_gene': 'RELA', 'score': 67.36}, {'connected_gene': 'ENSG00000255320', 'score': 67.33}, {'connected_gene': 'ENSG00000245156', 'score': 61.64}, {'connected_gene': 'ENSG00000254461', 'score': 57.96}, {'connected_gene': 'FRMD8', 'score': 50.93}, {'connected_gene': 'SF3B2', 'score': 50.6}, {'connected_gene': 'FAU', 'score': 48.27}, {'connected_gene': 'ENSG00000255038', 'score': 46.75}, {'connected_gene': 'SCYL1', 'score': 40.16}, {'connected_gene': 'NAALADL1', 'score': 32.4}, {'connected_gene': 'SSSCA1', 'score': 28.83}, {'connected_gene': 'ATG2A', 'score': 26.83}, {'connected_gene': 'ZNHIT2', 'score': 25.36}, {'connected_gene': 'SYVN1', 'score': 22.96}, {'connected_gene': 'ENSG00000269038', 'score': 22.26}, {'connected_gene': 'SSSCA1-AS1', 'score': 21.88}, {'connected_gene': 'RNASEH2C', 'score': 21.88}, {'connected_gene': 'RAB1B', 'score': 21.84}, {'connected_gene': 'MEN1', 'score': 20.75}, {'connected_gene': 'DPF2', 'score': 19.76}, {'connected_gene': 'MAP3K11', 'score': 18.69}, {'connected_gene': 'AP5B1', 'score': 18.38}, {'connected_gene': 'B4GAT1', 'score': 14.91}, {'connected_gene': 'VPS51', 'score': 13.42}, {'connected_gene': 'NRXN2', 'score': 13.05}, {'connected_gene': 'KLC2', 'score': 12.4}, {'connected_gene': 'EHBP1L1', 'score': 12.35}, {'connected_gene': 'BRMS1', 'score': 11.93}, {'connected_gene': 'SIPA1', 'score': 11.4}, {'connected_gene': 'SAC3D1', 'score': 10.99}, {'connected_gene': 'PPP2R5B', 'score': 10.6}, {'connected_gene': 'LTBP3', 'score': 10.1}, {'connected_gene': 'MALAT1', 'score': 10.08}, {'connected_gene': 'MRPL49', 'score': 10.07}, {'connected_gene': 'SNX32', 'score': 9.8}, {'connected_gene': 'CD248', 'score': 9.73}, {'connected_gene': 'TIGD3', 'score': 9.56}, {'connected_gene': 'BATF2', 'score': 9.28}, {'connected_gene': 'KCNK7', 'score': 6.66}, {'connected_gene': 'KRT8P26', 'score': 4.82}, {'connected_gene': 'CDC42EP2', 'score': 4.67}, {'connected_gene': 'ARL2', 'score': 4.59}, {'connected_gene': 'LOC101927789', 'score': 4.54}, {'connected_gene': 'TSGA10IP', 'score': 3.92}, {'connected_gene': 'SLC25A45', 'score': 2.61}, {'connected_gene': 'GC11P065418', 'score': 0.44}, {'connected_gene': 'GC11P065531', 'score': 0.37}]
chr11 GH11I065002 65002425 65003532 0.54 [{'connected_gene': 'EHBP1L1', 'score': 5.16}, {'connected_gene': 'EEF1A1P18', 'score': 4.65}, {'connected_gene': 'BATF2', 'score': 0.44}, {'connected_gene': 'ARL2-SNX15', 'score': 0.39}, {'connected_gene': 'ARL2', 'score': 0.39}]
chr11 GH11I065288 65288536 65303058 1.68 [{'connected_gene': 'POLA2', 'score': 21.02}, {'connected_gene': 'EHD1', 'score': 20.84}, {'connected_gene': 'LOC728975', 'score': 18.49}, {'connected_gene': 'SLC25A45', 'score': 12.95}, {'connected_gene': 'DPF2', 'score': 11.84}, {'connected_gene': 'FRMD8', 'score': 11.34}, {'connected_gene': 'ENSG00000255478', 'score': 11.15}, {'connected_gene': 'SPDYC', 'score': 11.01}, {'connected_gene': 'CAPN1', 'score': 10.86}, {'connected_gene': 'PGAM1P8', 'score': 10.86}, {'connected_gene': 'ENSG00000254501', 'score': 10.15}, {'connected_gene': 'TM7SF2', 'score': 10.15}, {'connected_gene': 'VPS51', 'score': 10.14}, {'connected_gene': 'CDC42EP2', 'score': 10.06}, {'connected_gene': 'MIR612', 'score': 10.04}, {'connected_gene': 'RELA', 'score': 9.87}, {'connected_gene': 'EHBP1L1', 'score': 8.06}, {'connected_gene': 'BATF2', 'score': 6.95}, {'connected_gene': 'AP5B1', 'score': 6.55}, {'connected_gene': 'NEAT1', 'score': 4.27}, {'connected_gene': 'KAT5', 'score': 3.6}, {'connected_gene': 'MAP3K11', 'score': 3.08}, {'connected_gene': 'FAU', 'score': 2.85}, {'connected_gene': 'LOC105369344', 'score': 0.37}]
chr11 GH11I065307 65307802 65309399 1.36 [{'connected_gene': 'POLA2', 'score': 28.8}, {'connected_gene': 'EHD1', 'score': 24.41}, {'connected_gene': 'BATF2', 'score': 21.52}, {'connected_gene': 'DPF2', 'score': 12.19}, {'connected_gene': 'RELA', 'score': 10.85}, {'connected_gene': 'CDC42EP2', 'score': 8.6}, {'connected_gene': 'LOC728975', 'score': 6.79}, {'connected_gene': 'EHBP1L1', 'score': 6.4}, {'connected_gene': 'AP5B1', 'score': 6.22}, {'connected_gene': 'FAU', 'score': 2.78}, {'connected_gene': 'KAT5', 'score': 2.52}, {'connected_gene': 'MAP3K11', 'score': 2.39}, {'connected_gene': 'SLC25A45', 'score': 1.3}, {'connected_gene': 'LOC105369344', 'score': 0.44}]
chr11 GH11I064934 64934829 64936203 1.48 [{'connected_gene': 'GPHA2', 'score': 555.3}, {'connected_gene': 'BATF2', 'score': 4.5}, {'connected_gene': 'PPP2R5B', 'score': 0.37}]
chr11 GH11I064996 64996197 65000136 2.03 [{'connected_gene': 'BATF2', 'score': 550.77}, {'connected_gene': 'ENSG00000269038', 'score': 11.8}, {'connected_gene': 'TRMT112', 'score': 5.88}, {'connected_gene': 'EHBP1L1', 'score': 5.66}, {'connected_gene': 'SPDYC', 'score': 5.57}, {'connected_gene': 'EEF1A1P18', 'score': 5.39}, {'connected_gene': 'SAC3D1', 'score': 5.03}, {'connected_gene': 'SLC22A20P', 'score': 4.29}, {'connected_gene': 'ARL2', 'score': 0.37}, {'connected_gene': 'ARL2-SNX15', 'score': 0.37}]
chr11 GH11I064846 64846749 64867357 1.83 [{'connected_gene': 'EHD1', 'score': 55.42}, {'connected_gene': 'MAP4K2', 'score': 13.31}, {'connected_gene': 'MIR192', 'score': 12.44}, {'connected_gene': 'MEN1', 'score': 12.2}, {'connected_gene': 'MAJIN', 'score': 10.5}, {'connected_gene': 'GPHA2', 'score': 10.45}, {'connected_gene': 'MAP3K11', 'score': 9.76}, {'connected_gene': 'CDC42EP2', 'score': 7.62}, {'connected_gene': 'CDC42BPG', 'score': 6.02}, {'connected_gene': 'NEAT1', 'score': 5.49}, {'connected_gene': 'ARL2', 'score': 5.35}, {'connected_gene': 'SNX15', 'score': 4.42}, {'connected_gene': 'LOC101927789', 'score': 4.27}, {'connected_gene': 'ATG2A', 'score': 4.1}, {'connected_gene': 'SF1', 'score': 3.8}, {'connected_gene': 'RASGRP2', 'score': 2.39}, {'connected_gene': 'FAU', 'score': 2.14}, {'connected_gene': 'BATF2', 'score': 1.7}, {'connected_gene': 'TIGD3', 'score': 1.59}, {'connected_gene': 'RPS16P6', 'score': 0.34}]
chr11 GH11I065470 65470088 65510079 2.89 [{'connected_gene': 'LOC105369346', 'score': 550.77}, {'connected_gene': 'SF1', 'score': 189.69}, {'connected_gene': 'PCNX3', 'score': 160.7}, {'connected_gene': 'POLA2', 'score': 158.56}, {'connected_gene': 'ZFPL1', 'score': 157.11}, {'connected_gene': 'EIF1AD', 'score': 154.22}, {'connected_gene': 'SART1', 'score': 127.69}, {'connected_gene': 'MUS81', 'score': 123.55}, {'connected_gene': 'LOC105369352', 'score': 116.17}, {'connected_gene': 'KAT5', 'score': 100.18}, {'connected_gene': 'ENSG00000255320', 'score': 96.85}, {'connected_gene': 'RELA', 'score': 96.16}, {'connected_gene': 'SF3B2', 'score': 94.84}, {'connected_gene': 'FRMD8', 'score': 88.89}, {'connected_gene': 'ENSG00000245156', 'score': 84.38}, {'connected_gene': 'ENSG00000255038', 'score': 77.14}, {'connected_gene': 'ENSG00000254461', 'score': 73.84}, {'connected_gene': 'SCYL1', 'score': 66.44}, {'connected_gene': 'MRPL11', 'score': 65.32}, {'connected_gene': 'NEAT1', 'score': 64.84}, {'connected_gene': 'SYVN1', 'score': 59.82}, {'connected_gene': 'ATG2A', 'score': 54.93}, {'connected_gene': 'NAALADL1', 'score': 54.58}, {'connected_gene': 'FAU', 'score': 50.66}, {'connected_gene': 'MEN1', 'score': 46.37}, {'connected_gene': 'RAB1B', 'score': 35.68}, {'connected_gene': 'ZNHIT2', 'score': 33.24}, {'connected_gene': 'VPS51', 'score': 31.76}, {'connected_gene': 'SSSCA1-AS1', 'score': 31.65}, {'connected_gene': 'EHBP1L1', 'score': 31.53}, {'connected_gene': 'ENSG00000269038', 'score': 30.32}, {'connected_gene': 'SSSCA1', 'score': 29.87}, {'connected_gene': 'LOC101928069', 'score': 29.44}, {'connected_gene': 'LOC101927789', 'score': 25.95}, {'connected_gene': 'CD248', 'score': 20.19}, {'connected_gene': 'BRMS1', 'score': 18.17}, {'connected_gene': 'CDC42EP2', 'score': 17.45}, {'connected_gene': 'SLC25A45', 'score': 14.01}, {'connected_gene': 'DPF2', 'score': 13.74}, {'connected_gene': 'MIR612', 'score': 12.86}, {'connected_gene': 'ENSG00000255478', 'score': 12.09}, {'connected_gene': 'KCNK7', 'score': 11.86}, {'connected_gene': 'RNASEH2C', 'score': 11.28}, {'connected_gene': 'SAC3D1', 'score': 10.98}, {'connected_gene': 'SNX32', 'score': 10.73}, {'connected_gene': 'MALAT1', 'score': 10.32}, {'connected_gene': 'MRPL49', 'score': 10.06}, {'connected_gene': 'AP5B1', 'score': 6.63}, {'connected_gene': 'LOC728975', 'score': 5.96}, {'connected_gene': 'YIF1A', 'score': 5.76}, {'connected_gene': 'KRT8P26', 'score': 5.19}, {'connected_gene': 'TSGA10IP', 'score': 4.06}, {'connected_gene': 'MAP3K11', 'score': 3.96}, {'connected_gene': 'BATF2', 'score': 3.6}, {'connected_gene': 'EFEMP2', 'score': 2.32}, {'connected_gene': 'C11orf68', 'score': 1.81}, {'connected_gene': 'LTBP3', 'score': 1.66}, {'connected_gene': 'DRAP1', 'score': 1.46}, {'connected_gene': 'SIPA1', 'score': 1.37}, {'connected_gene': 'GC11M065481', 'score': 0.44}, {'connected_gene': 'GC11P065503', 'score': 0.44}, {'connected_gene': 'ENSG00000270117', 'score': 0.44}, {'connected_gene': 'GC11P065527', 'score': 0.39}, {'connected_gene': 'ENSG00000278217', 'score': 0.39}, {'connected_gene': 'ENSG00000274072', 'score': 0.37}]
chr11 GH11I064989 64989601 64991000 1.51 [{'connected_gene': 'PIR50372', 'score': 550.77}, {'connected_gene': 'GC11M064989', 'score': 550.77}, {'connected_gene': 'BATF2', 'score': 550.44}, {'connected_gene': 'SF1', 'score': 20.28}, {'connected_gene': 'POLA2', 'score': 17.13}, {'connected_gene': 'MUS81', 'score': 14.98}, {'connected_gene': 'ZFPL1', 'score': 13.37}, {'connected_gene': 'SART1', 'score': 13.34}, {'connected_gene': 'RELA', 'score': 13.11}, {'connected_gene': 'SYVN1', 'score': 13.0}, {'connected_gene': 'PCNX3', 'score': 12.85}, {'connected_gene': 'FAU', 'score': 11.47}, {'connected_gene': 'PLCB3', 'score': 11.1}, {'connected_gene': 'NEAT1', 'score': 11.07}, {'connected_gene': 'ATG2A', 'score': 11.03}, {'connected_gene': 'KAT5', 'score': 10.44}, {'connected_gene': 'NAALADL1', 'score': 10.11}, {'connected_gene': 'FRMD8', 'score': 10.07}, {'connected_gene': 'MALAT1', 'score': 9.91}, {'connected_gene': 'SNX15', 'score': 4.7}]
chr11 GH11I064988 64988201 64988400 0.31 [{'connected_gene': 'PIR50372', 'score': 550.77}, {'connected_gene': 'GC11M064989', 'score': 0.77}, {'connected_gene': 'BATF2', 'score': 0.44}, {'connected_gene': 'MAJIN', 'score': 0.37}]

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