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
ENST00000380367 [[5172238, 5173920], [5207515, 5207612]] [[5172660, 5173599]]
ENST00000328942 [[5172660, 5173599]] [[5172660, 5173599]]
NM_012375 [[5172660, 5173599]] [[5172660, 5173599]]

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 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}]