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
ENST00000330597 [[5269312, 5269717], [5270597, 5270820], [5270942, 5271122]] [[5269588, 5269717], [5270597, 5270820], [5270942, 5271034]]
NM_000559 [[5269501, 5269717], [5270597, 5270820], [5270942, 5271087]] [[5269588, 5269717], [5270597, 5270820], [5270942, 5271034]]
Promoter
Chrom Start End Description
chr11 5269539 5269554 CAGE_peak_1_at_HBG1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I005278 5278184 5278305 0.59 [{'connected_gene': 'HBB', 'score': 11.72}, {'connected_gene': 'ENSG00000221031', 'score': 11.7}, {'connected_gene': 'HBBP1', 'score': 11.68}, {'connected_gene': 'HBD', 'score': 11.65}, {'connected_gene': 'HBG1', 'score': 11.4}, {'connected_gene': 'OR51B4', 'score': 10.19}, {'connected_gene': 'GC11M005280', 'score': 0.77}, {'connected_gene': 'GC11M005254', 'score': 0.34}, {'connected_gene': 'GC11M005255', 'score': 0.34}, {'connected_gene': 'GC11P005064', 'score': 0.08}, {'connected_gene': 'HBE1', 'score': 0.07}, {'connected_gene': 'HBG2', 'score': 0.05}]
chr11 GH11I005276 5276746 5276838 0.43 [{'connected_gene': 'HBB', 'score': 11.72}, {'connected_gene': 'ENSG00000221031', 'score': 11.7}, {'connected_gene': 'HBBP1', 'score': 11.68}, {'connected_gene': 'HBD', 'score': 11.65}, {'connected_gene': 'HBG1', 'score': 11.4}, {'connected_gene': 'OR51B4', 'score': 10.16}, {'connected_gene': 'GC11M005280', 'score': 0.77}, {'connected_gene': 'GC11M005254', 'score': 0.34}, {'connected_gene': 'GC11M005255', 'score': 0.34}, {'connected_gene': 'GC11P005064', 'score': 0.08}, {'connected_gene': 'HBE1', 'score': 0.07}, {'connected_gene': 'HBG2', 'score': 0.05}]
chr11 GH11I005258 5258590 5259249 1.06 [{'connected_gene': 'TRIM68', 'score': 14.21}, {'connected_gene': 'HBG2', 'score': 11.92}, {'connected_gene': 'HBB', 'score': 11.14}, {'connected_gene': 'ENSG00000221031', 'score': 11.12}, {'connected_gene': 'HBG1', 'score': 6.81}, {'connected_gene': 'GC11M005254', 'score': 0.44}, {'connected_gene': 'GC11M005255', 'score': 0.44}, {'connected_gene': 'GC11M005280', 'score': 0.34}, {'connected_gene': 'GC11P005064', 'score': 0.08}]
chr11 GH11I005290 5290584 5290734 0.2 [{'connected_gene': 'OR51AB1P', 'score': 550.77}, {'connected_gene': 'ENSG00000224091', 'score': 11.99}, {'connected_gene': 'HBBP1', 'score': 11.02}, {'connected_gene': 'HBD', 'score': 10.99}, {'connected_gene': 'HBB', 'score': 10.98}, {'connected_gene': 'OR51V1', 'score': 10.93}, {'connected_gene': 'ENSG00000221031', 'score': 10.71}, {'connected_gene': 'HBG1', 'score': 10.27}, {'connected_gene': 'OR52A4P', 'score': 9.63}, {'connected_gene': 'OR51M1', 'score': 9.24}, {'connected_gene': 'GC11M005283', 'score': 0.44}, {'connected_gene': 'HBE1', 'score': 0.08}, {'connected_gene': 'GC11P005064', 'score': 0.07}, {'connected_gene': 'HBG2', 'score': 0.05}]
chr11 GH11I005272 5272050 5273673 0.66 [{'connected_gene': 'HBG1', 'score': 18.27}, {'connected_gene': 'HBBP1', 'score': 12.2}, {'connected_gene': 'HBD', 'score': 12.16}, {'connected_gene': 'HBB', 'score': 12.15}, {'connected_gene': 'ENSG00000221031', 'score': 11.51}, {'connected_gene': 'OR51V1', 'score': 10.17}, {'connected_gene': 'OR51B4', 'score': 9.98}, {'connected_gene': 'HBG2', 'score': 4.8}, {'connected_gene': 'GC11M005280', 'score': 0.44}, {'connected_gene': 'GC11M005254', 'score': 0.37}, {'connected_gene': 'GC11M005255', 'score': 0.37}, {'connected_gene': 'GC11P005064', 'score': 0.08}, {'connected_gene': 'HBE1', 'score': 0.07}]
chr11 GH11I005249 5249847 5249906 0.96 [{'connected_gene': 'HBG1', 'score': 550.77}, {'connected_gene': 'BGLT3', 'score': 0.77}, {'connected_gene': 'GC11P005064', 'score': 0.09}]
chr11 GH11I005269 5269933 5269992 1.02 [{'connected_gene': 'HBE1', 'score': 550.07}, {'connected_gene': 'FAM160A2', 'score': 20.77}, {'connected_gene': 'HBBP1', 'score': 12.2}, {'connected_gene': 'HBD', 'score': 12.18}, {'connected_gene': 'HBB', 'score': 12.15}, {'connected_gene': 'ENSG00000221031', 'score': 11.51}, {'connected_gene': 'HBG1', 'score': 11.37}, {'connected_gene': 'OR51V1', 'score': 10.18}, {'connected_gene': 'OR51B4', 'score': 9.96}, {'connected_gene': 'TRIM34', 'score': 9.95}, {'connected_gene': 'GC11M005280', 'score': 0.39}, {'connected_gene': 'GC11M005254', 'score': 0.37}, {'connected_gene': 'GC11M005255', 'score': 0.37}, {'connected_gene': 'GC11P005064', 'score': 0.08}, {'connected_gene': 'HBG2', 'score': 0.05}]
chr11 GH11I005270 5270209 5270268 0.79 [{'connected_gene': 'HBE1', 'score': 550.07}, {'connected_gene': 'HBBP1', 'score': 12.2}, {'connected_gene': 'HBD', 'score': 12.18}, {'connected_gene': 'HBB', 'score': 12.15}, {'connected_gene': 'ENSG00000221031', 'score': 11.51}, {'connected_gene': 'HBG1', 'score': 11.37}, {'connected_gene': 'OR51V1', 'score': 10.18}, {'connected_gene': 'OR51B4', 'score': 9.96}, {'connected_gene': 'GC11M005280', 'score': 0.39}, {'connected_gene': 'GC11M005254', 'score': 0.37}, {'connected_gene': 'GC11M005255', 'score': 0.37}, {'connected_gene': 'GC11P005064', 'score': 0.08}, {'connected_gene': 'HBG2', 'score': 0.05}]
chr11 GH11I005241 5241342 5242702 0.59 [{'connected_gene': 'HBBP1', 'score': 550.77}, {'connected_gene': 'HBG2', 'score': 14.75}, {'connected_gene': 'HBG1', 'score': 5.0}, {'connected_gene': 'HBD', 'score': 0.44}, {'connected_gene': 'GC11P005064', 'score': 0.1}]
chr11 GH11I005274 5274464 5276618 1.36 [{'connected_gene': 'HBD', 'score': 94.16}, {'connected_gene': 'HBG2', 'score': 69.03}, {'connected_gene': 'HBB', 'score': 13.85}, {'connected_gene': 'HBG1', 'score': 13.73}, {'connected_gene': 'HBBP1', 'score': 12.18}, {'connected_gene': 'ENSG00000221031', 'score': 11.7}, {'connected_gene': 'OR51V1', 'score': 10.17}, {'connected_gene': 'OR51B4', 'score': 10.16}, {'connected_gene': 'GC11M005280', 'score': 0.44}, {'connected_gene': 'GC11M005254', 'score': 0.34}, {'connected_gene': 'GC11M005255', 'score': 0.34}, {'connected_gene': 'GC11P005064', 'score': 0.08}, {'connected_gene': 'HBE1', 'score': 0.07}]
chr11 GH11I005281 5278833 5278996 0.59 [{'connected_gene': 'HBD', 'score': 45.21}, {'connected_gene': 'HBG2', 'score': 35.49}, {'connected_gene': 'HBG1', 'score': 20.12}, {'connected_gene': 'HBB', 'score': 13.05}, {'connected_gene': 'ENSG00000221031', 'score': 11.7}, {'connected_gene': 'HBBP1', 'score': 11.66}, {'connected_gene': 'OR51B4', 'score': 10.19}, {'connected_gene': 'GC11M005280', 'score': 0.77}, {'connected_gene': 'GC11M005254', 'score': 0.31}, {'connected_gene': 'GC11M005255', 'score': 0.31}, {'connected_gene': 'GC11P005064', 'score': 0.08}, {'connected_gene': 'HBE1', 'score': 0.07}]
chr11 GH11I005287 5287130 5290353 1.39 [{'connected_gene': 'HBD', 'score': 79.34}, {'connected_gene': 'HBG2', 'score': 76.2}, {'connected_gene': 'HBG1', 'score': 19.1}, {'connected_gene': 'ENSG00000224091', 'score': 12.0}, {'connected_gene': 'HBBP1', 'score': 11.14}, {'connected_gene': 'HBB', 'score': 11.11}, {'connected_gene': 'OR51V1', 'score': 10.93}, {'connected_gene': 'ENSG00000221031', 'score': 10.71}, {'connected_gene': 'OR52A4P', 'score': 9.63}, {'connected_gene': 'OR51M1', 'score': 9.24}, {'connected_gene': 'GC11M005283', 'score': 0.77}, {'connected_gene': 'OR51AB1P', 'score': 0.77}, {'connected_gene': 'HBE1', 'score': 0.08}, {'connected_gene': 'GC11P005064', 'score': 0.07}]
chr11 GH11I005289 5284551 5284690 0.78 [{'connected_gene': 'GC11M005283', 'score': 550.77}, {'connected_gene': 'HBB', 'score': 11.35}, {'connected_gene': 'ENSG00000221031', 'score': 11.35}, {'connected_gene': 'ENSG00000224091', 'score': 11.12}, {'connected_gene': 'HBG1', 'score': 10.39}, {'connected_gene': 'OR51V1', 'score': 9.97}, {'connected_gene': 'OR51B5', 'score': 9.66}, {'connected_gene': 'GC11M005280', 'score': 0.77}, {'connected_gene': 'HBE1', 'score': 0.07}, {'connected_gene': 'GC11P005064', 'score': 0.07}, {'connected_gene': 'HBG2', 'score': 0.05}]
chr11 GH11I005288 5284956 5286758 0.92 [{'connected_gene': 'GC11M005283', 'score': 550.77}, {'connected_gene': 'ENSG00000224091', 'score': 11.73}, {'connected_gene': 'HBB', 'score': 11.35}, {'connected_gene': 'ENSG00000221031', 'score': 11.34}, {'connected_gene': 'HBBP1', 'score': 11.15}, {'connected_gene': 'HBD', 'score': 11.12}, {'connected_gene': 'OR51V1', 'score': 10.76}, {'connected_gene': 'HBG1', 'score': 10.53}, {'connected_gene': 'OR51B5', 'score': 9.75}, {'connected_gene': 'OR51AB1P', 'score': 0.44}, {'connected_gene': 'HBE1', 'score': 0.08}, {'connected_gene': 'GC11P005064', 'score': 0.07}, {'connected_gene': 'HBG2', 'score': 0.05}]
chr11 GH11I005279 5279711 5282339 1.62 [{'connected_gene': 'GC11M005280', 'score': 550.77}, {'connected_gene': 'HBG2', 'score': 51.96}, {'connected_gene': 'HBD', 'score': 49.96}, {'connected_gene': 'HBB', 'score': 12.56}, {'connected_gene': 'ENSG00000221031', 'score': 11.3}, {'connected_gene': 'OR51B4', 'score': 10.86}, {'connected_gene': 'HBG1', 'score': 6.92}, {'connected_gene': 'GC11M005283', 'score': 0.77}, {'connected_gene': 'GC11P005064', 'score': 0.08}, {'connected_gene': 'HBE1', 'score': 0.07}]
chr11 GH11I005291 5283813 5283911 0.31 [{'connected_gene': 'GC11M005283', 'score': 550.77}, {'connected_gene': 'HBBP1', 'score': 11.96}, {'connected_gene': 'HBD', 'score': 11.95}, {'connected_gene': 'HBB', 'score': 11.93}, {'connected_gene': 'HBG1', 'score': 10.46}, {'connected_gene': 'OR51V1', 'score': 10.3}, {'connected_gene': 'GC11M005280', 'score': 0.77}, {'connected_gene': 'GC11P005064', 'score': 0.08}, {'connected_gene': 'HBE1', 'score': 0.07}, {'connected_gene': 'HBG2', 'score': 0.05}]
chr11 GH11I005283 5283420 5283522 0.2 [{'connected_gene': 'GC11M005283', 'score': 550.77}, {'connected_gene': 'HBBP1', 'score': 11.98}, {'connected_gene': 'HBD', 'score': 11.95}, {'connected_gene': 'HBB', 'score': 11.93}, {'connected_gene': 'HBG1', 'score': 10.46}, {'connected_gene': 'OR51V1', 'score': 10.3}, {'connected_gene': 'GC11M005280', 'score': 0.77}, {'connected_gene': 'GC11P005064', 'score': 0.08}, {'connected_gene': 'HBE1', 'score': 0.07}, {'connected_gene': 'HBG2', 'score': 0.05}]
chr11 GH11I005285 5283291 5283411 0.31 [{'connected_gene': 'GC11M005283', 'score': 550.77}, {'connected_gene': 'HBBP1', 'score': 11.98}, {'connected_gene': 'HBD', 'score': 11.95}, {'connected_gene': 'HBB', 'score': 11.93}, {'connected_gene': 'HBG1', 'score': 10.46}, {'connected_gene': 'OR51V1', 'score': 10.3}, {'connected_gene': 'GC11M005280', 'score': 0.77}, {'connected_gene': 'GC11P005064', 'score': 0.08}, {'connected_gene': 'HBE1', 'score': 0.07}, {'connected_gene': 'HBG2', 'score': 0.05}]
chr11 GH11I005284 5283984 5284526 0.59 [{'connected_gene': 'GC11M005283', 'score': 550.77}, {'connected_gene': 'HBBP1', 'score': 11.96}, {'connected_gene': 'HBD', 'score': 11.95}, {'connected_gene': 'HBB', 'score': 11.93}, {'connected_gene': 'ENSG00000221031', 'score': 11.35}, {'connected_gene': 'ENSG00000224091', 'score': 11.12}, {'connected_gene': 'HBG1', 'score': 10.46}, {'connected_gene': 'OR51V1', 'score': 10.3}, {'connected_gene': 'OR51B5', 'score': 9.74}, {'connected_gene': 'GC11M005280', 'score': 0.77}, {'connected_gene': 'HBE1', 'score': 0.07}, {'connected_gene': 'GC11P005064', 'score': 0.07}, {'connected_gene': 'HBG2', 'score': 0.05}]
chr11 GH11I005244 5244450 5245906 0.7 [{'connected_gene': 'GC11M005252', 'score': 550.77}, {'connected_gene': 'BGLT3', 'score': 550.77}, {'connected_gene': 'HBBP1', 'score': 550.77}, {'connected_gene': 'HBG2', 'score': 11.62}, {'connected_gene': 'HBG1', 'score': 7.54}, {'connected_gene': 'GC11P005064', 'score': 0.09}]

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