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
ENST00000449264 [[31543343, 31543704], [31544310, 31544356], [31544543, 31544591], [31544892, 31546113]] [[31543518, 31543704], [31544310, 31544356], [31544543, 31544591], [31544892, 31545314]]
NM_000594 [[31543343, 31543704], [31544310, 31544356], [31544543, 31544591], [31544892, 31546113]] [[31543518, 31543704], [31544310, 31544356], [31544543, 31544591], [31544892, 31545314]]
NM_000594 [[2859023, 2859074], [2859261, 2859309], [2859610, 2860831]] [[2859023, 2859074], [2859261, 2859309], [2859610, 2860032]]
NM_000594 [[3052959, 3053320], [3053926, 3053972], [3054159, 3054207], [3054508, 3055729]] [[3053134, 3053320], [3053926, 3053972], [3054159, 3054207], [3054508, 3054930]]
NM_000594 [[2828884, 2829245], [2829851, 2829897], [2830084, 2830132], [2830433, 2831654]] [[2829059, 2829245], [2829851, 2829897], [2830084, 2830132], [2830433, 2830855]]
NM_000594 [[2923049, 2923410], [2924016, 2924062], [2924249, 2924297], [2924598, 2925819]] [[2923224, 2923410], [2924016, 2924062], [2924249, 2924297], [2924598, 2925020]]
NM_000594 [[2836981, 2837342], [2837950, 2837996], [2838183, 2838231], [2838532, 2839753]] [[2837156, 2837342], [2837950, 2837996], [2838183, 2838231], [2838532, 2838954]]
NM_000594 [[2886227, 2886588], [2887194, 2887240], [2887427, 2887475], [2887776, 2888997]] [[2886402, 2886588], [2887194, 2887240], [2887427, 2887475], [2887776, 2888198]]
NM_000594 [[2874144, 2874505], [2875111, 2875157], [2875344, 2875392], [2875693, 2876914]] [[2874319, 2874505], [2875111, 2875157], [2875344, 2875392], [2875693, 2876115]]
Promoter
Chrom Start End Description
chr6 31543334 31543351 CAGE_peak_1_at_TNF_5end
chr6 31544102 31544108 CAGE_peak_16_at_TNF_5end
chr6 31544284 31544295 CAGE_peak_10_at_TNF_5end
chr6 31544299 31544311 CAGE_peak_7_at_TNF_5end
chr6 31544315 31544327 CAGE_peak_5_at_TNF_5end
chr6 31544400 31544409 CAGE_peak_13_at_TNF_5end
chr6 31544513 31544522 CAGE_peak_14_at_TNF_5end
chr6 31544526 31544561 CAGE_peak_4_at_TNF_5end
chr6 31544588 31544598 CAGE_peak_11_at_TNF_5end
chr6 31545312 31545327 CAGE_peak_3_at_TNF_5end
chr6 31545336 31545360 CAGE_peak_2_at_TNF_5end
chr6 31545371 31545374 CAGE_peak_15_at_TNF_5end
chr6 31545417 31545428 CAGE_peak_6_at_TNF_5end
chr6 31545559 31545570 CAGE_peak_9_at_TNF_5end
chr6 31546047 31546058 CAGE_peak_8_at_TNF_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 GH06I031813 31813064 31838688 2.61 [{'connected_gene': 'C6orf48', 'score': 560.42}, {'connected_gene': 'HSPA1B', 'score': 558.22}, {'connected_gene': 'HSPA1A', 'score': 557.56}, {'connected_gene': 'HSPA1L', 'score': 554.6}, {'connected_gene': 'GC06P032039', 'score': 550.77}, {'connected_gene': 'ATF6B', 'score': 113.91}, {'connected_gene': 'DDX39B', 'score': 111.43}, {'connected_gene': 'LY6G5B', 'score': 91.72}, {'connected_gene': 'LSM2', 'score': 73.12}, {'connected_gene': 'BAG6', 'score': 65.65}, {'connected_gene': 'SKIV2L', 'score': 64.04}, {'connected_gene': 'CSNK2B', 'score': 63.59}, {'connected_gene': 'GPANK1', 'score': 57.28}, {'connected_gene': 'PBX2', 'score': 57.01}, {'connected_gene': 'MSH5', 'score': 50.71}, {'connected_gene': 'VARS', 'score': 45.74}, {'connected_gene': 'GTF2H4', 'score': 37.88}, {'connected_gene': 'C6orf47', 'score': 34.21}, {'connected_gene': 'CCHCR1', 'score': 33.69}, {'connected_gene': 'RPL3P2', 'score': 32.71}, {'connected_gene': 'TCF19', 'score': 31.93}, {'connected_gene': 'NFKBIL1', 'score': 31.47}, {'connected_gene': 'MICA', 'score': 29.67}, {'connected_gene': 'LY6G6C', 'score': 24.72}, {'connected_gene': 'DXO', 'score': 24.71}, {'connected_gene': 'VWA7', 'score': 22.05}, {'connected_gene': 'STK19B', 'score': 20.59}, {'connected_gene': 'C4A', 'score': 20.2}, {'connected_gene': 'HLA-DRB1', 'score': 19.24}, {'connected_gene': 'PPT2', 'score': 18.25}, {'connected_gene': 'HLA-C', 'score': 16.42}, {'connected_gene': 'LY6G5C', 'score': 16.14}, {'connected_gene': 'HLA-DQA2', 'score': 14.0}, {'connected_gene': 'HLA-DQB2', 'score': 13.77}, {'connected_gene': 'MICB', 'score': 13.2}, {'connected_gene': 'SAPCD1', 'score': 11.69}, {'connected_gene': 'SAPCD1-AS1', 'score': 11.69}, {'connected_gene': 'ENSG00000201555', 'score': 11.66}, {'connected_gene': 'MSH5-SAPCD1', 'score': 11.65}, {'connected_gene': 'ENSG00000201207', 'score': 11.51}, {'connected_gene': 'RNU6-850P', 'score': 11.16}, {'connected_gene': 'NELFE', 'score': 10.88}, {'connected_gene': 'DDAH2', 'score': 10.86}, {'connected_gene': 'MPIG6B', 'score': 10.85}, {'connected_gene': 'LY6G6E', 'score': 10.84}, {'connected_gene': 'ENSG00000204422', 'score': 10.84}, {'connected_gene': 'LY6G6D', 'score': 10.84}, {'connected_gene': 'HLA-DOB', 'score': 10.61}, {'connected_gene': 'STK19', 'score': 10.51}, {'connected_gene': 'LTB', 'score': 10.17}, {'connected_gene': 'SNORD117', 'score': 10.13}, {'connected_gene': 'HLA-DQA1', 'score': 9.9}, {'connected_gene': 'VARS2', 'score': 9.82}, {'connected_gene': 'CLIC1', 'score': 9.81}, {'connected_gene': 'AGER', 'score': 6.22}, {'connected_gene': 'HLA-DRB5', 'score': 5.65}, {'connected_gene': 'TNF', 'score': 2.34}, {'connected_gene': 'NEU1', 'score': 1.62}, {'connected_gene': 'PIR48823', 'score': 0.77}, {'connected_gene': 'SNORD48', 'score': 0.44}, {'connected_gene': 'GC06P032041', 'score': 0.44}, {'connected_gene': 'GC06P032038', 'score': 0.39}, {'connected_gene': 'PIR57926', 'score': 0.39}, {'connected_gene': 'SNORD52', 'score': 0.39}, {'connected_gene': 'GC06P032040', 'score': 0.39}]
chr6 GH06I031733 31733220 31741689 2.72 [{'connected_gene': 'MSH5', 'score': 604.02}, {'connected_gene': 'CLIC1', 'score': 559.22}, {'connected_gene': 'DDX39B', 'score': 106.6}, {'connected_gene': 'LY6G5B', 'score': 102.51}, {'connected_gene': 'ATF6B', 'score': 92.91}, {'connected_gene': 'LSM2', 'score': 79.87}, {'connected_gene': 'CSNK2B', 'score': 72.29}, {'connected_gene': 'SKIV2L', 'score': 68.8}, {'connected_gene': 'GPANK1', 'score': 56.74}, {'connected_gene': 'BAG6', 'score': 52.9}, {'connected_gene': 'PBX2', 'score': 51.74}, {'connected_gene': 'NFKBIL1', 'score': 49.46}, {'connected_gene': 'VARS', 'score': 47.52}, {'connected_gene': 'CCHCR1', 'score': 42.83}, {'connected_gene': 'TCF19', 'score': 41.5}, {'connected_gene': 'GTF2H4', 'score': 38.05}, {'connected_gene': 'MICA', 'score': 37.35}, {'connected_gene': 'LY6G5C', 'score': 33.77}, {'connected_gene': 'C6orf47', 'score': 32.5}, {'connected_gene': 'RPL3P2', 'score': 31.35}, {'connected_gene': 'SAPCD1', 'score': 23.38}, {'connected_gene': 'ABHD16A', 'score': 22.21}, {'connected_gene': 'PPT2', 'score': 21.82}, {'connected_gene': 'TNXB', 'score': 21.38}, {'connected_gene': 'NELFE', 'score': 21.11}, {'connected_gene': 'C4A', 'score': 20.11}, {'connected_gene': 'DXO', 'score': 19.38}, {'connected_gene': 'HSPA1L', 'score': 16.48}, {'connected_gene': 'HLA-C', 'score': 14.71}, {'connected_gene': 'STK19', 'score': 14.58}, {'connected_gene': 'MICB', 'score': 14.42}, {'connected_gene': 'LY6G6C', 'score': 14.12}, {'connected_gene': 'HSPA1A', 'score': 12.66}, {'connected_gene': 'ENSG00000204422', 'score': 12.39}, {'connected_gene': 'LY6G6E', 'score': 12.39}, {'connected_gene': 'LY6G6D', 'score': 12.39}, {'connected_gene': 'SAPCD1-AS1', 'score': 12.13}, {'connected_gene': 'VWA7', 'score': 12.1}, {'connected_gene': 'ENSG00000201555', 'score': 11.61}, {'connected_gene': 'HLA-B', 'score': 11.55}, {'connected_gene': 'HLA-DRB1', 'score': 11.23}, {'connected_gene': 'ENSG00000201207', 'score': 10.89}, {'connected_gene': 'EGFL8', 'score': 10.25}, {'connected_gene': 'FKBPL', 'score': 9.92}, {'connected_gene': 'HLA-DQA1', 'score': 9.9}, {'connected_gene': 'GPSM3', 'score': 6.67}, {'connected_gene': 'LST1', 'score': 4.77}, {'connected_gene': 'MPIG6B', 'score': 4.67}, {'connected_gene': 'ATP6V1G2', 'score': 4.22}, {'connected_gene': 'NEU1', 'score': 3.64}, {'connected_gene': 'TNF', 'score': 3.54}, {'connected_gene': 'AGPAT1', 'score': 3.26}, {'connected_gene': 'AIF1', 'score': 2.41}, {'connected_gene': 'HSPA1B', 'score': 1.44}, {'connected_gene': 'LOC105375020', 'score': 0.77}, {'connected_gene': 'MSH5-SAPCD1', 'score': 0.77}, {'connected_gene': 'DDAH2', 'score': 0.44}]
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 GH06I031925 31925688 31925858 0.22 [{'connected_gene': 'ENSG00000244255', 'score': 550.77}, {'connected_gene': 'TNF', 'score': 10.98}, {'connected_gene': 'STK19', 'score': 2.31}, {'connected_gene': 'CLIC1', 'score': 1.26}, {'connected_gene': 'LST1', 'score': 1.26}, {'connected_gene': 'ZBTB12', 'score': 0.34}, {'connected_gene': 'C2', 'score': 0.31}]

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