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
ENST00000495600 [[31556671, 31557008], [31557302, 31557410], [31557558, 31557676], [31560567, 31560589]] None
ENST00000491161 [[31556671, 31557008], [31557302, 31557410], [31557558, 31557903], [31560633, 31560736]] None
ENST00000340027 [[31556671, 31556953], [31557302, 31557410], [31557558, 31557903], [31560455, 31560762]] [[31556843, 31556953], [31557302, 31557410], [31557558, 31557903], [31560455, 31560498]]
ENST00000376073 [[31556671, 31557008], [31557302, 31557410], [31557558, 31557903], [31560455, 31560762]] [[31556970, 31557008], [31557302, 31557410], [31557558, 31557903], [31560455, 31560498]]
ENST00000376072 [[31557050, 31557165], [31557302, 31557410], [31557558, 31557903], [31560455, 31560762]] [[31557088, 31557165], [31557302, 31557410], [31557558, 31557903], [31560455, 31560498]]
ENST00000376071 [[31557073, 31557165], [31557302, 31557410], [31557558, 31557676], [31557751, 31557903], [31560455, 31560526]] [[31557088, 31557165], [31557302, 31557410], [31557558, 31557676], [31557751, 31557903], [31560455, 31560498]]
NM_001145466 [[31556659, 31557008], [31557302, 31557410], [31557558, 31557903], [31560455, 31560762]] [[31556970, 31557008], [31557302, 31557410], [31557558, 31557903], [31560455, 31560498]]
NM_147130 [[31556659, 31556953], [31557302, 31557410], [31557558, 31557903], [31560455, 31560762]] [[31556843, 31556953], [31557302, 31557410], [31557558, 31557903], [31560455, 31560498]]
NM_001145467 [[31557050, 31557165], [31557302, 31557410], [31557558, 31557903], [31560455, 31560762]] [[31557088, 31557165], [31557302, 31557410], [31557558, 31557903], [31560455, 31560498]]
NM_001145466 [[2871377, 2871726], [2872020, 2872128], [2872276, 2872621], [2875173, 2875480]] [[2871688, 2871726], [2872020, 2872128], [2872276, 2872621], [2875173, 2875216]]
NM_147130 [[2871377, 2871671], [2872020, 2872128], [2872276, 2872621], [2875173, 2875480]] [[2871561, 2871671], [2872020, 2872128], [2872276, 2872621], [2875173, 2875216]]
NM_001145467 [[2871768, 2871883], [2872020, 2872128], [2872276, 2872621], [2875173, 2875480]] [[2871806, 2871883], [2872020, 2872128], [2872276, 2872621], [2875173, 2875216]]
NM_001145466 [[3066271, 3066620], [3066914, 3067022], [3067170, 3067515], [3070067, 3070374]] [[3066582, 3066620], [3066914, 3067022], [3067170, 3067515], [3070067, 3070110]]
NM_147130 [[3066271, 3066565], [3066914, 3067022], [3067170, 3067515], [3070067, 3070374]] [[3066455, 3066565], [3066914, 3067022], [3067170, 3067515], [3070067, 3070110]]
NM_001145467 [[3066662, 3066777], [3066914, 3067022], [3067170, 3067515], [3070067, 3070374]] [[3066700, 3066777], [3066914, 3067022], [3067170, 3067515], [3070067, 3070110]]
NM_001145466 [[2842204, 2842553], [2842847, 2842955], [2843103, 2843448], [2846000, 2846307]] [[2842515, 2842553], [2842847, 2842955], [2843103, 2843448], [2846000, 2846043]]
NM_147130 [[2842204, 2842498], [2842847, 2842955], [2843103, 2843448], [2846000, 2846307]] [[2842388, 2842498], [2842847, 2842955], [2843103, 2843448], [2846000, 2846043]]
NM_001145467 [[2842595, 2842710], [2842847, 2842955], [2843103, 2843448], [2846000, 2846307]] [[2842633, 2842710], [2842847, 2842955], [2843103, 2843448], [2846000, 2846043]]
NM_001145466 [[2936360, 2936709], [2937003, 2937111], [2937259, 2937604], [2940156, 2940463]] [[2936671, 2936709], [2937003, 2937111], [2937259, 2937604], [2940156, 2940199]]
NM_147130 [[2936360, 2936654], [2937003, 2937111], [2937259, 2937604], [2940156, 2940463]] [[2936544, 2936654], [2937003, 2937111], [2937259, 2937604], [2940156, 2940199]]
NM_001145467 [[2936751, 2936866], [2937003, 2937111], [2937259, 2937604], [2940156, 2940463]] [[2936789, 2936866], [2937003, 2937111], [2937259, 2937604], [2940156, 2940199]]
NM_001145466 [[2850301, 2850650], [2850944, 2851052], [2851200, 2851545], [2854095, 2854402]] [[2850612, 2850650], [2850944, 2851052], [2851200, 2851545], [2854095, 2854138]]
NM_147130 [[2850301, 2850595], [2850944, 2851052], [2851200, 2851545], [2854095, 2854402]] [[2850485, 2850595], [2850944, 2851052], [2851200, 2851545], [2854095, 2854138]]
NM_001145467 [[2850692, 2850807], [2850944, 2851052], [2851200, 2851545], [2854095, 2854402]] [[2850730, 2850807], [2850944, 2851052], [2851200, 2851545], [2854095, 2854138]]
NM_001145466 [[2899543, 2899892], [2900186, 2900294], [2900442, 2900787], [2903339, 2903646]] [[2899854, 2899892], [2900186, 2900294], [2900442, 2900787], [2903339, 2903382]]
NM_147130 [[2899543, 2899837], [2900186, 2900294], [2900442, 2900787], [2903339, 2903646]] [[2899727, 2899837], [2900186, 2900294], [2900442, 2900787], [2903339, 2903382]]
NM_001145467 [[2899934, 2900049], [2900186, 2900294], [2900442, 2900787], [2903339, 2903646]] [[2899972, 2900049], [2900186, 2900294], [2900442, 2900787], [2903339, 2903382]]
NM_001145466 [[2887461, 2887810], [2888104, 2888212], [2888360, 2888705], [2891256, 2891563]] [[2887772, 2887810], [2888104, 2888212], [2888360, 2888705], [2891256, 2891299]]
NM_147130 [[2887461, 2887755], [2888104, 2888212], [2888360, 2888705], [2891256, 2891563]] [[2887645, 2887755], [2888104, 2888212], [2888360, 2888705], [2891256, 2891299]]
NM_001145467 [[2887852, 2887967], [2888104, 2888212], [2888360, 2888705], [2891256, 2891563]] [[2887890, 2887967], [2888104, 2888212], [2888360, 2888705], [2891256, 2891299]]
Promoter
Chrom Start End Description
chr6 31560704 31560716 CAGE_peak_3_at_NCR3_5end
chr6 31560729 31560768 CAGE_peak_1_at_NCR3_5end
chr6 31560772 31560795 CAGE_peak_2_at_NCR3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I031598 31598264 31598601 1.12 [{'connected_gene': 'DDX39B', 'score': 28.9}, {'connected_gene': 'MICB', 'score': 21.62}, {'connected_gene': 'ATF6B', 'score': 18.5}, {'connected_gene': 'LY6G5B', 'score': 17.62}, {'connected_gene': 'SKIV2L', 'score': 16.43}, {'connected_gene': 'C4A', 'score': 15.72}, {'connected_gene': 'PPP1R10', 'score': 15.33}, {'connected_gene': 'PBX2', 'score': 14.64}, {'connected_gene': 'LSM2', 'score': 14.13}, {'connected_gene': 'DHX16', 'score': 13.85}, {'connected_gene': 'MDC1', 'score': 13.54}, {'connected_gene': 'RPL3P2', 'score': 12.69}, {'connected_gene': 'NFKBIL1', 'score': 12.18}, {'connected_gene': 'TCF19', 'score': 11.35}, {'connected_gene': 'MICA', 'score': 10.92}, {'connected_gene': 'ENSG00000272540', 'score': 10.57}, {'connected_gene': 'MSH5', 'score': 10.51}, {'connected_gene': 'GTF2H4', 'score': 10.44}, {'connected_gene': 'NRM', 'score': 9.79}, {'connected_gene': 'NCR3', 'score': 0.44}, {'connected_gene': 'UQCRHP1', 'score': 0.39}]
chr6 GH06I031599 31598644 31598833 0.95 [{'connected_gene': 'DDX39B', 'score': 28.9}, {'connected_gene': 'ATF6B', 'score': 21.02}, {'connected_gene': 'LY6G5B', 'score': 17.62}, {'connected_gene': 'SKIV2L', 'score': 16.43}, {'connected_gene': 'PPP1R10', 'score': 15.33}, {'connected_gene': 'PBX2', 'score': 14.64}, {'connected_gene': 'LSM2', 'score': 14.13}, {'connected_gene': 'DHX16', 'score': 13.85}, {'connected_gene': 'MDC1', 'score': 13.54}, {'connected_gene': 'RPL3P2', 'score': 12.69}, {'connected_gene': 'NFKBIL1', 'score': 12.18}, {'connected_gene': 'TCF19', 'score': 11.35}, {'connected_gene': 'MICA', 'score': 10.92}, {'connected_gene': 'ENSG00000272540', 'score': 10.57}, {'connected_gene': 'MSH5', 'score': 10.51}, {'connected_gene': 'GTF2H4', 'score': 10.44}, {'connected_gene': 'NRM', 'score': 9.79}, {'connected_gene': 'NCR3', 'score': 0.44}, {'connected_gene': 'UQCRHP1', 'score': 0.39}]
chr6 GH06I031596 31596945 31597414 0.94 [{'connected_gene': 'DDX39B', 'score': 14.21}, {'connected_gene': 'LST1', 'score': 7.63}, {'connected_gene': 'MICB', 'score': 4.42}, {'connected_gene': 'NCR3', 'score': 0.77}, {'connected_gene': 'UQCRHP1', 'score': 0.39}]
chr6 GH06I031567 31567298 31589539 2.76 [{'connected_gene': 'TNF', 'score': 637.63}, {'connected_gene': 'LST1', 'score': 556.56}, {'connected_gene': 'GC06P032075', 'score': 550.77}, {'connected_gene': 'GC06P031961', 'score': 550.77}, {'connected_gene': 'GC06P031586', 'score': 550.77}, {'connected_gene': 'GC06P031681', 'score': 550.77}, {'connected_gene': 'GC06P031613', 'score': 550.77}, {'connected_gene': 'GC06P031587', 'score': 550.77}, {'connected_gene': 'GC06P032071', 'score': 550.77}, {'connected_gene': 'GC06P031994', 'score': 550.77}, {'connected_gene': 'GC06P031598', 'score': 550.77}, {'connected_gene': 'GC06P031618', 'score': 550.77}, {'connected_gene': 'GC06P031616', 'score': 550.77}, {'connected_gene': 'GC06P031772', 'score': 550.77}, {'connected_gene': 'GC06P031585', 'score': 550.77}, {'connected_gene': 'GC06P031612', 'score': 550.77}, {'connected_gene': 'GC06P031599', 'score': 550.77}, {'connected_gene': 'LTB', 'score': 550.77}, {'connected_gene': 'GC06P031751', 'score': 550.77}, {'connected_gene': 'GC06P031932', 'score': 550.77}, {'connected_gene': 'LTA', 'score': 550.37}, {'connected_gene': 'DDX39B', 'score': 68.7}, {'connected_gene': 'LY6G5B', 'score': 36.47}, {'connected_gene': 'ATF6B', 'score': 26.5}, {'connected_gene': 'RPL3P2', 'score': 22.93}, {'connected_gene': 'LSM2', 'score': 22.86}, {'connected_gene': 'MICB', 'score': 22.2}, {'connected_gene': 'PPT2', 'score': 21.87}, {'connected_gene': 'C6orf47', 'score': 21.49}, {'connected_gene': 'NFKBIL1', 'score': 21.45}, {'connected_gene': 'TNXB', 'score': 21.17}, {'connected_gene': 'TCF19', 'score': 20.91}, {'connected_gene': 'MICA', 'score': 20.26}, {'connected_gene': 'MDC1', 'score': 20.16}, {'connected_gene': 'HLA-C', 'score': 17.48}, {'connected_gene': 'PPP1R10', 'score': 13.47}, {'connected_gene': 'ATP6V1G2', 'score': 13.13}, {'connected_gene': 'DHX16', 'score': 13.11}, {'connected_gene': 'UQCRHP1', 'score': 13.07}, {'connected_gene': 'SKIV2L', 'score': 13.06}, {'connected_gene': 'AIF1', 'score': 13.05}, {'connected_gene': 'DDX39B-AS1', 'score': 11.92}, {'connected_gene': 'SNORD117', 'score': 11.46}, {'connected_gene': 'APOM', 'score': 11.07}, {'connected_gene': 'ENSG00000201207', 'score': 11.05}, {'connected_gene': 'BAG6', 'score': 11.05}, {'connected_gene': 'MCCD1', 'score': 11.03}, {'connected_gene': 'RPL15P4', 'score': 11.02}, {'connected_gene': 'PPIAP9', 'score': 11.01}, {'connected_gene': 'PBX2', 'score': 10.75}, {'connected_gene': 'NRM', 'score': 10.62}, {'connected_gene': 'ENSG00000199332', 'score': 10.28}, {'connected_gene': 'EGFL8', 'score': 10.23}, {'connected_gene': 'ATAT1', 'score': 10.22}, {'connected_gene': 'GPANK1', 'score': 10.15}, {'connected_gene': 'CSNK2B', 'score': 10.15}, {'connected_gene': 'C4A', 'score': 10.04}, {'connected_gene': 'MICA-AS1', 'score': 7.51}, {'connected_gene': 'POU5F1', 'score': 6.34}, {'connected_gene': 'ENSG00000271581', 'score': 5.55}, {'connected_gene': 'HCG23', 'score': 5.43}, {'connected_gene': 'CYP21A2', 'score': 5.39}, {'connected_gene': 'AGER', 'score': 5.36}, {'connected_gene': 'HLA-B', 'score': 4.94}, {'connected_gene': 'HCP5', 'score': 4.17}, {'connected_gene': 'ENSG00000272501', 'score': 4.03}, {'connected_gene': 'STK19', 'score': 2.0}, {'connected_gene': 'NEU1', 'score': 1.54}, {'connected_gene': 'HSPA1B', 'score': 1.45}, {'connected_gene': 'CLIC1', 'score': 1.37}, {'connected_gene': 'HSPA1A', 'score': 1.34}, {'connected_gene': 'LOC100287329', 'score': 0.44}, {'connected_gene': 'NCR3', 'score': 0.39}]
chr6 GH06I031557 31557470 31561711 1.17 [{'connected_gene': 'LTA', 'score': 550.77}, {'connected_gene': 'CSNK2B', 'score': 15.13}, {'connected_gene': 'DDX39B', 'score': 14.74}, {'connected_gene': 'LST1', 'score': 13.22}, {'connected_gene': 'NCR3', 'score': 13.2}, {'connected_gene': 'UQCRHP1', 'score': 13.14}, {'connected_gene': 'LTB', 'score': 13.13}, {'connected_gene': 'AIF1', 'score': 13.13}, {'connected_gene': 'SNORD117', 'score': 11.46}, {'connected_gene': 'PSORS1C2', 'score': 11.44}, {'connected_gene': 'C6orf47', 'score': 11.08}, {'connected_gene': 'ENSG00000201207', 'score': 11.08}, {'connected_gene': 'HLA-C', 'score': 11.01}, {'connected_gene': 'GPANK1', 'score': 10.57}, {'connected_gene': 'LY6G5B', 'score': 10.56}, {'connected_gene': 'HSPA1A', 'score': 10.01}, {'connected_gene': 'HSPA1L', 'score': 10.0}, {'connected_gene': 'ATP6V1G2', 'score': 9.78}, {'connected_gene': 'MICB', 'score': 7.53}, {'connected_gene': 'MICA-AS1', 'score': 7.0}, {'connected_gene': 'C4B', 'score': 6.05}, {'connected_gene': 'NFKBIL1', 'score': 0.39}, {'connected_gene': 'LOC100287329', 'score': 0.39}]
chr6 GH06I031269 31269285 31273637 2.43 [{'connected_gene': 'HLA-C', 'score': 663.55}, {'connected_gene': 'PIR41455', 'score': 550.77}, {'connected_gene': 'PSORS1C3', 'score': 32.59}, {'connected_gene': 'PPT2', 'score': 30.02}, {'connected_gene': 'TNXB', 'score': 21.47}, {'connected_gene': 'LSM2', 'score': 21.35}, {'connected_gene': 'PSORS1C2', 'score': 19.97}, {'connected_gene': 'HCG18', 'score': 19.53}, {'connected_gene': 'HCG27', 'score': 16.29}, {'connected_gene': 'ENSG00000229836', 'score': 16.08}, {'connected_gene': 'TCF19', 'score': 14.85}, {'connected_gene': 'DDX39B', 'score': 14.56}, {'connected_gene': 'HLA-B', 'score': 13.23}, {'connected_gene': 'MSH5', 'score': 13.22}, {'connected_gene': 'LY6G5B', 'score': 12.71}, {'connected_gene': 'RPL3P2', 'score': 12.12}, {'connected_gene': 'ZBTB12', 'score': 11.88}, {'connected_gene': 'ATF6B', 'score': 11.51}, {'connected_gene': 'MICA-AS1', 'score': 11.09}, {'connected_gene': 'PSORS1C1', 'score': 11.01}, {'connected_gene': 'PPP1R10', 'score': 10.73}, {'connected_gene': 'MDC1', 'score': 10.52}, {'connected_gene': 'SAPCD1', 'score': 10.41}, {'connected_gene': 'NFKBIL1', 'score': 10.38}, {'connected_gene': 'PRR3', 'score': 10.38}, {'connected_gene': 'MICA', 'score': 10.29}, {'connected_gene': 'EGFL8', 'score': 10.23}, {'connected_gene': 'HCG22', 'score': 9.68}, {'connected_gene': 'ENSG00000271581', 'score': 8.32}, {'connected_gene': 'ABHD16A', 'score': 7.3}, {'connected_gene': 'POU5F1', 'score': 6.93}, {'connected_gene': 'ENSG00000272501', 'score': 5.62}, {'connected_gene': 'MICB', 'score': 5.53}, {'connected_gene': 'AGER', 'score': 4.13}, {'connected_gene': 'NCR3', 'score': 2.18}, {'connected_gene': 'LST1', 'score': 1.92}, {'connected_gene': 'LTB', 'score': 1.62}, {'connected_gene': 'AIF1', 'score': 1.55}]
chr6 GH06I031591 31591954 31594209 1.42 [{'connected_gene': 'NCR3', 'score': 550.77}, {'connected_gene': 'DDX39B', 'score': 25.48}, {'connected_gene': 'MICA-AS1', 'score': 18.14}, {'connected_gene': 'MICA', 'score': 16.64}, {'connected_gene': 'LSM2', 'score': 15.79}, {'connected_gene': 'NRM', 'score': 15.47}, {'connected_gene': 'TCF19', 'score': 13.62}, {'connected_gene': 'ATP6V1G2', 'score': 12.89}, {'connected_gene': 'ENSG00000199332', 'score': 12.83}, {'connected_gene': 'TNXB', 'score': 12.74}, {'connected_gene': 'MDC1', 'score': 12.38}, {'connected_gene': 'DHX16', 'score': 11.95}, {'connected_gene': 'ATF6B', 'score': 11.48}, {'connected_gene': 'C6orf47', 'score': 11.42}, {'connected_gene': 'LY6G5B', 'score': 10.9}, {'connected_gene': 'RNU6-850P', 'score': 10.11}, {'connected_gene': 'ENSG00000271581', 'score': 7.69}, {'connected_gene': 'LST1', 'score': 6.92}, {'connected_gene': 'MICB', 'score': 4.42}, {'connected_gene': 'HLA-C', 'score': 4.36}, {'connected_gene': 'SKIV2L', 'score': 4.13}, {'connected_gene': 'UQCRHP1', 'score': 0.37}]
chr6 GH06I031609 31609439 31610202 0.77 [{'connected_gene': 'UQCRHP1', 'score': 550.77}, {'connected_gene': 'HLA-DRB1', 'score': 15.84}, {'connected_gene': 'BAG6', 'score': 6.93}, {'connected_gene': 'NCR3', 'score': 0.37}]

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