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
ENST00000495859 [[31686424, 31687087], [31687869, 31687980], [31688729, 31688840], [31689404, 31689456]] [[31686872, 31687082]]
ENST00000375819 [[31686424, 31687087], [31687869, 31687980], [31689404, 31689622]] [[31686872, 31687087], [31687869, 31687980], [31689404, 31689456]]
NM_025261 [[31686424, 31687087], [31687869, 31687980], [31689404, 31689511]] [[31686872, 31687087], [31687869, 31687980], [31689404, 31689456]]
NM_025261 [[3196041, 3196704], [3197486, 3197597], [3199021, 3199128]] [[3196489, 3196704], [3197486, 3197597], [3199021, 3199073]]
NM_025261 [[2971994, 2972657], [2973439, 2973550], [2974974, 2975081]] [[2972442, 2972657], [2973439, 2973550], [2974974, 2975026]]
NM_025261 [[3066107, 3066770], [3067552, 3067663], [3069087, 3069194]] [[3066555, 3066770], [3067552, 3067663], [3069087, 3069139]]
NM_025261 [[2980057, 2980720], [2981502, 2981613], [2983037, 2983144]] [[2980505, 2980720], [2981502, 2981613], [2983037, 2983089]]
NM_025261 [[3029313, 3029976], [3030758, 3030869], [3032293, 3032400]] [[3029761, 3029976], [3030758, 3030869], [3032293, 3032345]]
NM_025261 [[3017241, 3017904], [3018686, 3018797], [3020221, 3020328]] [[3017689, 3017904], [3018686, 3018797], [3020221, 3020273]]
Promoter
Chrom Start End Description
chr6 31689515 31689539 CAGE_peak_1_at_LY6G6C_5end
chr6 31689797 31689829 CAGE_peak_2_at_LY6G6C_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I031721 31721736 31721795 0.5 [{'connected_gene': 'LY6G6C', 'score': 550.77}, {'connected_gene': 'MPIG6B', 'score': 0.77}]
chr6 GH06I031717 31717438 31719439 0.92 [{'connected_gene': 'MPIG6B', 'score': 550.77}, {'connected_gene': 'LY6G5C', 'score': 21.2}, {'connected_gene': 'MICA', 'score': 16.62}, {'connected_gene': 'LSM2', 'score': 15.88}, {'connected_gene': 'TCF19', 'score': 13.6}, {'connected_gene': 'HLA-DRB1', 'score': 13.55}, {'connected_gene': 'DDX39B', 'score': 13.11}, {'connected_gene': 'ENSG00000199332', 'score': 12.8}, {'connected_gene': 'TNXB', 'score': 12.76}, {'connected_gene': 'ATF6B', 'score': 11.5}, {'connected_gene': 'C6orf47', 'score': 11.43}, {'connected_gene': 'MICA-AS1', 'score': 11.33}, {'connected_gene': 'LY6G5B', 'score': 10.96}, {'connected_gene': 'RNU6-850P', 'score': 10.3}, {'connected_gene': 'LY6G6C', 'score': 0.77}, {'connected_gene': 'LY6G6D', 'score': 0.77}, {'connected_gene': 'LY6G6F-LY6G6D', 'score': 0.39}]
chr6 GH06I031720 31720324 31720473 0.38 [{'connected_gene': 'MPIG6B', 'score': 550.77}, {'connected_gene': 'LY6G6C', 'score': 550.77}, {'connected_gene': 'LY6G5C', 'score': 17.27}, {'connected_gene': 'PSORS1C3', 'score': 7.01}]
chr6 GH06I031723 31723279 31723800 1.19 [{'connected_gene': 'MPIG6B', 'score': 550.77}, {'connected_gene': 'LY6G6C', 'score': 550.77}, {'connected_gene': 'DDAH2', 'score': 0.44}]
chr6 GH06I031750 31750281 31750852 0.68 [{'connected_gene': 'C4A', 'score': 20.11}, {'connected_gene': 'LY6G6C', 'score': 9.17}, {'connected_gene': 'RNU6-850P', 'score': 0.44}, {'connected_gene': 'MSH5', 'score': 0.39}, {'connected_gene': 'MSH5-SAPCD1', 'score': 0.39}]
chr6 GH06I032106 32106381 32116122 2.04 [{'connected_gene': 'TNXB', 'score': 559.11}, {'connected_gene': 'C4A', 'score': 33.8}, {'connected_gene': 'HLA-DRB1', 'score': 25.68}, {'connected_gene': 'ATF6B', 'score': 24.39}, {'connected_gene': 'SKIV2L', 'score': 13.9}, {'connected_gene': 'STK19', 'score': 11.52}, {'connected_gene': 'TNXA', 'score': 10.96}, {'connected_gene': 'AGER', 'score': 10.9}, {'connected_gene': 'CYP21A1P', 'score': 10.59}, {'connected_gene': 'STK19B', 'score': 9.12}, {'connected_gene': 'CYP21A2', 'score': 6.53}, {'connected_gene': 'VWA7', 'score': 6.09}, {'connected_gene': 'PPT2', 'score': 5.82}, {'connected_gene': 'HLA-DRB6', 'score': 5.21}, {'connected_gene': 'LY6G5B', 'score': 4.05}, {'connected_gene': 'LY6G6C', 'score': 2.55}, {'connected_gene': 'EGFL8', 'score': 2.46}, {'connected_gene': 'RNF5', 'score': 2.01}, {'connected_gene': 'RNA5SP206', 'score': 0.29}]
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 GH06I031762 31762834 31764353 1.44 [{'connected_gene': 'SAPCD1', 'score': 550.77}, {'connected_gene': 'SAPCD1-AS1', 'score': 550.77}, {'connected_gene': 'DDX39B', 'score': 23.46}, {'connected_gene': 'SKIV2L', 'score': 19.05}, {'connected_gene': 'ATF6B', 'score': 16.86}, {'connected_gene': 'LY6G5B', 'score': 15.49}, {'connected_gene': 'LSM2', 'score': 13.04}, {'connected_gene': 'RPL3P2', 'score': 12.99}, {'connected_gene': 'NFKBIL1', 'score': 12.65}, {'connected_gene': 'TCF19', 'score': 12.44}, {'connected_gene': 'LY6G6C', 'score': 11.84}, {'connected_gene': 'MICA', 'score': 11.76}, {'connected_gene': 'PBX2', 'score': 10.76}, {'connected_gene': 'C6orf47', 'score': 10.59}, {'connected_gene': 'ENSG00000199332', 'score': 10.24}, {'connected_gene': 'PPT2', 'score': 10.19}, {'connected_gene': 'TNXB', 'score': 9.94}, {'connected_gene': 'MSH5-SAPCD1', 'score': 0.34}, {'connected_gene': 'MSH5', 'score': 0.34}]
chr6 GH06I031725 31725794 31731367 2.49 [{'connected_gene': 'DDAH2', 'score': 550.77}, {'connected_gene': 'DDX39B', 'score': 100.29}, {'connected_gene': 'LY6G5B', 'score': 86.28}, {'connected_gene': 'ATF6B', 'score': 83.34}, {'connected_gene': 'LSM2', 'score': 64.86}, {'connected_gene': 'SKIV2L', 'score': 63.02}, {'connected_gene': 'PBX2', 'score': 56.19}, {'connected_gene': 'NFKBIL1', 'score': 50.98}, {'connected_gene': 'CSNK2B', 'score': 43.07}, {'connected_gene': 'MSH5', 'score': 41.09}, {'connected_gene': 'GTF2H4', 'score': 39.01}, {'connected_gene': 'TCF19', 'score': 35.06}, {'connected_gene': 'DXO', 'score': 33.61}, {'connected_gene': 'MICA', 'score': 30.99}, {'connected_gene': 'GPANK1', 'score': 30.13}, {'connected_gene': 'RPL3P2', 'score': 29.95}, {'connected_gene': 'BAG6', 'score': 27.25}, {'connected_gene': 'C6orf47', 'score': 22.12}, {'connected_gene': 'VARS', 'score': 21.34}, {'connected_gene': 'HLA-DRB1', 'score': 18.8}, {'connected_gene': 'LY6G5C', 'score': 17.15}, {'connected_gene': 'STK19', 'score': 10.47}, {'connected_gene': 'CCHCR1', 'score': 10.28}, {'connected_gene': 'PPT2', 'score': 10.11}, {'connected_gene': 'ABHD16A', 'score': 10.05}, {'connected_gene': 'CLIC1', 'score': 10.03}, {'connected_gene': 'HLA-B', 'score': 4.91}, {'connected_gene': 'ATP6V1G2', 'score': 4.04}, {'connected_gene': 'MPIG6B', 'score': 0.44}, {'connected_gene': 'LY6G6C', 'score': 0.44}]
chr6 GH06I032080 32080537 32084463 1.27 [{'connected_gene': 'HLA-DRB1', 'score': 24.01}, {'connected_gene': 'ATF6B', 'score': 18.09}, {'connected_gene': 'CYP21A1P', 'score': 14.59}, {'connected_gene': 'FKBPL', 'score': 10.66}, {'connected_gene': 'TNXB', 'score': 5.55}, {'connected_gene': 'PPT2', 'score': 4.0}, {'connected_gene': 'LY6G6C', 'score': 2.51}, {'connected_gene': 'RNA5SP206', 'score': 0.77}]
chr6 GH06I031466 31466077 31469169 0.54 [{'connected_gene': 'GC06M031449', 'score': 550.77}, {'connected_gene': 'HLA-C', 'score': 26.65}, {'connected_gene': 'MICB', 'score': 14.96}, {'connected_gene': 'C4B', 'score': 13.8}, {'connected_gene': 'PPIAP9', 'score': 11.52}, {'connected_gene': 'MCCD1', 'score': 11.5}, {'connected_gene': 'RPL15P4', 'score': 11.5}, {'connected_gene': 'DDX39B', 'score': 11.15}, {'connected_gene': 'SNORD117', 'score': 11.11}, {'connected_gene': 'PSORS1C2', 'score': 10.51}, {'connected_gene': 'LY6G6C', 'score': 9.8}, {'connected_gene': 'STK19B', 'score': 9.49}, {'connected_gene': 'PSORS1C3', 'score': 9.26}, {'connected_gene': 'TCF19', 'score': 7.93}, {'connected_gene': 'HLA-B', 'score': 6.89}, {'connected_gene': 'CCHCR1', 'score': 6.75}, {'connected_gene': 'MICA', 'score': 6.75}, {'connected_gene': 'PSORS1C1', 'score': 6.46}, {'connected_gene': 'HCG27', 'score': 5.9}, {'connected_gene': 'HCG26', 'score': 0.77}, {'connected_gene': 'GC06M031422', 'score': 0.37}, {'connected_gene': 'HCP5', 'score': 0.2}]

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