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
ENST00000321255 [[5220964, 5221930]] [[5220964, 5221930]]
NM_001004760 [[5220964, 5221930]] [[5220964, 5221930]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I005328 5328996 5329360 0.24 [{'connected_gene': 'OR51G1', 'score': 21.09}, {'connected_gene': 'OR51T1', 'score': 14.97}, {'connected_gene': 'OR52N2', 'score': 8.73}, {'connected_gene': 'OR52N4', 'score': 8.12}, {'connected_gene': 'OR52D1', 'score': 6.53}, {'connected_gene': 'OR52J3', 'score': 6.32}, {'connected_gene': 'MMP26', 'score': 3.98}, {'connected_gene': 'OR51L1', 'score': 3.83}, {'connected_gene': 'OR51B2', 'score': 3.4}, {'connected_gene': 'OR51M1', 'score': 3.0}, {'connected_gene': 'OR52N5', 'score': 2.95}, {'connected_gene': 'OR51V1', 'score': 2.46}, {'connected_gene': 'OR51G2', 'score': 2.22}, {'connected_gene': 'OR52N1', 'score': 2.12}, {'connected_gene': 'OR52A1', 'score': 2.0}, {'connected_gene': 'OR51B6', 'score': 1.93}, {'connected_gene': 'OR51Q1', 'score': 1.66}, {'connected_gene': 'OR51S1', 'score': 1.36}, {'connected_gene': 'OR56B1', 'score': 1.29}, {'connected_gene': 'OR51B8P', 'score': 0.77}, {'connected_gene': 'ENSG00000167355', 'score': 0.1}, {'connected_gene': 'HBE1', 'score': 0.1}, {'connected_gene': 'GC11P005064', 'score': 0.07}, {'connected_gene': 'HBG2', 'score': 0.06}]
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 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 GH11I005379 5379987 5379996 0.22 [{'connected_gene': 'OR51V1', 'score': 12.94}, {'connected_gene': 'OR51T1', 'score': 11.06}, {'connected_gene': 'HBB', 'score': 9.71}, {'connected_gene': 'OR51B5', 'score': 9.65}, {'connected_gene': 'OR51G1', 'score': 8.88}, {'connected_gene': 'OR56B1', 'score': 8.32}, {'connected_gene': 'OR52J3', 'score': 8.02}, {'connected_gene': 'OR51L1', 'score': 6.09}, {'connected_gene': 'OR52N4', 'score': 5.61}, {'connected_gene': 'OR52D1', 'score': 5.04}, {'connected_gene': 'OR52E2', 'score': 4.79}, {'connected_gene': 'OR52N5', 'score': 3.88}, {'connected_gene': 'OR52N2', 'score': 3.02}, {'connected_gene': 'OR52N1', 'score': 2.97}, {'connected_gene': 'MMP26', 'score': 2.64}, {'connected_gene': 'OR51B2', 'score': 2.05}, {'connected_gene': 'OR51M1', 'score': 1.92}, {'connected_gene': 'OR51G2', 'score': 1.92}, {'connected_gene': 'OR51I1', 'score': 1.91}, {'connected_gene': 'OR52A1', 'score': 1.74}, {'connected_gene': 'OR51Q1', 'score': 1.66}, {'connected_gene': 'OR52E6', 'score': 1.6}, {'connected_gene': 'GC11P005378', 'score': 0.77}, {'connected_gene': 'ENSG00000167355', 'score': 0.13}, {'connected_gene': 'HBE1', 'score': 0.13}, {'connected_gene': 'HBG2', 'score': 0.06}, {'connected_gene': 'GC11P005064', 'score': 0.06}]
chr11 GH11I005546 5546179 5546312 0.25 [{'connected_gene': 'OR56A1', 'score': 21.42}, {'connected_gene': 'OR56A3', 'score': 19.49}, {'connected_gene': 'OR51Q1', 'score': 17.89}, {'connected_gene': 'OR52E8', 'score': 14.81}, {'connected_gene': 'OR52N1', 'score': 13.88}, {'connected_gene': 'OR56A4', 'score': 12.05}, {'connected_gene': 'OR52N4', 'score': 11.51}, {'connected_gene': 'OR52E2', 'score': 11.37}, {'connected_gene': 'OR52E4', 'score': 10.9}, {'connected_gene': 'OR52A1', 'score': 10.31}, {'connected_gene': 'OR52N5', 'score': 9.23}, {'connected_gene': 'OR56A5', 'score': 8.74}, {'connected_gene': 'OR52N2', 'score': 8.68}, {'connected_gene': 'OR52E6', 'score': 8.3}, {'connected_gene': 'OR51B6', 'score': 7.69}, {'connected_gene': 'OR51M1', 'score': 7.54}, {'connected_gene': 'OR52J3', 'score': 6.9}, {'connected_gene': 'OR51V1', 'score': 6.62}, {'connected_gene': 'OR51B2', 'score': 5.16}, {'connected_gene': 'OR52H1', 'score': 5.06}, {'connected_gene': 'OR52D1', 'score': 4.28}, {'connected_gene': 'OR56B1', 'score': 3.56}, {'connected_gene': 'OR52V1P', 'score': 0.37}, {'connected_gene': 'HBG2', 'score': 0.15}]
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 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 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 GH11I005204 5204931 5205080 0.76 [{'connected_gene': 'ENSG00000224091', 'score': 550.77}, {'connected_gene': 'OR51V1', 'score': 0.77}, {'connected_gene': 'GC11P005064', 'score': 0.11}]
chr11 GH11I005361 5361843 5369223 0.94 [{'connected_gene': 'ENSG00000224091', 'score': 11.16}, {'connected_gene': 'OR51B5', 'score': 10.98}, {'connected_gene': 'OR51B4', 'score': 10.47}, {'connected_gene': 'OR51J1', 'score': 10.24}, {'connected_gene': 'OR51V1', 'score': 10.14}, {'connected_gene': 'OR52A4P', 'score': 10.13}, {'connected_gene': 'HBB', 'score': 9.81}, {'connected_gene': 'ENSG00000221031', 'score': 9.8}, {'connected_gene': 'OR51I2', 'score': 9.35}, {'connected_gene': 'ENSG00000167355', 'score': 8.32}, {'connected_gene': 'LOC100288935', 'score': 0.77}, {'connected_gene': 'GC11P005362', 'score': 0.77}, {'connected_gene': 'GC11P005378', 'score': 0.39}, {'connected_gene': 'HBE1', 'score': 0.11}, {'connected_gene': 'HBG2', 'score': 0.06}, {'connected_gene': 'GC11P005064', 'score': 0.06}]