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
ENST00000454783 [[31539830, 31540079], [31540510, 31540618], [31540704, 31540810], [31541057, 31542101]] [[31540519, 31540618], [31540704, 31540810], [31541057, 31541470]]
ENST00000489638 [[31540046, 31540079], [31540510, 31540810], [31541057, 31542101]] None
ENST00000418386 [[31540059, 31540223], [31540510, 31540618], [31540704, 31540810], [31541057, 31542101]] [[31540519, 31540618], [31540704, 31540810], [31541057, 31541470]]
ENST00000471842 [[31540070, 31540223], [31540510, 31540810], [31541057, 31542101]] None
NM_001159740 [[31539875, 31540079], [31540510, 31540618], [31540704, 31540810], [31541057, 31542101]] [[31540519, 31540618], [31540704, 31540810], [31541057, 31541470]]
NM_000595 [[31540070, 31540223], [31540510, 31540618], [31540704, 31540810], [31541057, 31542101]] [[31540519, 31540618], [31540704, 31540810], [31541057, 31541470]]
NM_001159740 [[3049491, 3049695], [3050126, 3050234], [3050320, 3050426], [3050673, 3051717]] [[3050135, 3050234], [3050320, 3050426], [3050673, 3051086]]
NM_000595 [[3049687, 3049839], [3050126, 3050234], [3050320, 3050426], [3050673, 3051717]] [[3050135, 3050234], [3050320, 3050426], [3050673, 3051086]]
NM_001159740 [[2825414, 2825618], [2826051, 2826159], [2826245, 2826351], [2826598, 2827642]] [[2826060, 2826159], [2826245, 2826351], [2826598, 2827011]]
NM_000595 [[2825609, 2825762], [2826051, 2826159], [2826245, 2826351], [2826598, 2827642]] [[2826060, 2826159], [2826245, 2826351], [2826598, 2827011]]
NM_001159740 [[2919579, 2919783], [2920216, 2920324], [2920410, 2920516], [2920763, 2921807]] [[2920225, 2920324], [2920410, 2920516], [2920763, 2921176]]
NM_000595 [[2919774, 2919927], [2920216, 2920324], [2920410, 2920516], [2920763, 2921807]] [[2920225, 2920324], [2920410, 2920516], [2920763, 2921176]]
NM_001159740 [[2833511, 2833715], [2834148, 2834256], [2834342, 2834448], [2834695, 2835739]] [[2834157, 2834256], [2834342, 2834448], [2834695, 2835108]]
NM_000595 [[2833706, 2833859], [2834148, 2834256], [2834342, 2834448], [2834695, 2835739]] [[2834157, 2834256], [2834342, 2834448], [2834695, 2835108]]
NM_001159740 [[2882759, 2882963], [2883394, 2883502], [2883588, 2883694], [2883941, 2884985]] [[2883403, 2883502], [2883588, 2883694], [2883941, 2884354]]
NM_000595 [[2882954, 2883107], [2883394, 2883502], [2883588, 2883694], [2883941, 2884985]] [[2883403, 2883502], [2883588, 2883694], [2883941, 2884354]]
NM_001159740 [[2870676, 2870880], [2871311, 2871419], [2871505, 2871611], [2871858, 2872902]] [[2871320, 2871419], [2871505, 2871611], [2871858, 2872271]]
NM_000595 [[2870871, 2871024], [2871311, 2871419], [2871505, 2871611], [2871858, 2872902]] [[2871320, 2871419], [2871505, 2871611], [2871858, 2872271]]
Promoter
Chrom Start End Description
chr6 31540056 31540074 CAGE_peak_1_at_LTA_5end
chr6 31540286 31540301 CAGE_peak_5_at_LTA_5end
chr6 31540488 31540521 CAGE_peak_2_at_LTA_5end
chr6 31540557 31540570 CAGE_peak_4_at_LTA_5end
chr6 31540695 31540713 CAGE_peak_3_at_LTA_5end
chr6 31540746 31540753 CAGE_peak_10_at_LTA_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I031563 31562692 31564262 1.43 [{'connected_gene': 'TNF', 'score': 31.22}, {'connected_gene': 'MICB', 'score': 21.66}, {'connected_gene': 'BAG6', 'score': 11.27}, {'connected_gene': 'CCHCR1', 'score': 10.85}, {'connected_gene': 'CSNK2B', 'score': 10.66}, {'connected_gene': 'DHX16', 'score': 9.96}, {'connected_gene': 'ATP6V1G2', 'score': 9.93}, {'connected_gene': 'HLA-C', 'score': 8.28}, {'connected_gene': 'HCG23', 'score': 5.31}, {'connected_gene': 'HLA-B', 'score': 2.37}, {'connected_gene': 'STK19', 'score': 1.82}, {'connected_gene': 'CLIC1', 'score': 1.8}, {'connected_gene': 'LST1', 'score': 1.58}, {'connected_gene': 'LTA', 'score': 0.77}, {'connected_gene': 'LOC100287329', 'score': 0.44}]
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 GH06I031551 31551464 31551633 0.72 [{'connected_gene': 'MICB', 'score': 20.69}, {'connected_gene': 'HLA-C', 'score': 5.59}, {'connected_gene': 'LY6G5C', 'score': 4.58}, {'connected_gene': 'NFKBIL1', 'score': 0.77}, {'connected_gene': 'ATP6V1G2', 'score': 0.77}, {'connected_gene': 'LTA', 'score': 0.44}, {'connected_gene': 'LOC100287329', 'score': 0.34}]
chr6 GH06I031562 31562045 31562434 0.76 [{'connected_gene': 'LTA', 'score': 550.77}, {'connected_gene': 'TNF', 'score': 43.02}, {'connected_gene': 'ATP6V1G2', 'score': 13.2}, {'connected_gene': 'STK19', 'score': 1.59}, {'connected_gene': 'HLA-B', 'score': 1.54}, {'connected_gene': 'LST1', 'score': 1.53}, {'connected_gene': 'HSPA1B', 'score': 1.19}, {'connected_gene': 'LOC100287329', '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}]

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