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
ENST00000375650 [[31795511, 31798031]] [[31795727, 31797653]]
ENST00000545241 [[31795727, 31795802], [31796033, 31796039], [31796081, 31797653]] [[31795727, 31795802], [31796033, 31796039], [31796081, 31797653]]
NM_005346 [[31795511, 31798031]] [[31795727, 31797653]]
NM_005346 [[3110275, 3112789]] [[3110491, 3112417]]
NM_005346 [[3305093, 3307616]] [[3305309, 3307235]]
NM_005346 [[3081098, 3083618]] [[3081314, 3083240]]
NM_005346 [[3089162, 3091686]] [[3089378, 3091304]]
Promoter
Chrom Start End Description
chr6 31783311 31783328 CAGE_peak_1_at_HSPA1A_5end,CAGE_peak_1_at_HSPA1B_5end
chr6 31795158 31795173 CAGE_peak_12_at_HSPA1B_5end,CAGE_peak_4_at_HSPA1A_5end
chr6 31795506 31795525 CAGE_peak_2_at_HSPA1A_5end,CAGE_peak_2_at_HSPA1B_5end
chr6 31797613 31797631 CAGE_peak_7_at_HSPA1B_5end
chr6 31797644 31797684 CAGE_peak_4_at_HSPA1B_5end
chr6 31797703 31797718 CAGE_peak_10_at_HSPA1B_5end
chr6 31797719 31797797 CAGE_peak_3_at_HSPA1B_5end
chr6 31797806 31797840 CAGE_peak_5_at_HSPA1B_5end
chr6 31797843 31797856 CAGE_peak_9_at_HSPA1B_5end
chr6 31797870 31797898 CAGE_peak_6_at_HSPA1B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
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}]