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
ENST00000341756 [[166778406, 166778941], [166779461, 166779594], [166780282, 166780379], [166780451, 166780455], [166796293, 166796486]] [[166778916, 166778941], [166779461, 166779594], [166780282, 166780379], [166780451, 166780455], [166796293, 166796364]]
ENST00000360961 [[166778406, 166778941], [166779461, 166779594], [166780282, 166780379], [166783705, 166783709], [166796293, 166796486]] [[166778916, 166778941], [166779461, 166779594], [166780282, 166780379], [166783705, 166783709], [166796293, 166796364]]
ENST00000487218 [[166778561, 166778941], [166779461, 166779594], [166780282, 166780379], [166780456, 166780672], [166783705, 166783709], [166796293, 166796381]] None
ENST00000366868 [[166778717, 166778941], [166779461, 166779594], [166780282, 166780379], [166783705, 166783823]] None
ENST00000475708 [[166778819, 166778941], [166779461, 166779594], [166780282, 166780379], [166782220, 166782449], [166783705, 166783709], [166796293, 166796359]] None
NR_073093 [[166778406, 166778941], [166779461, 166779594], [166780282, 166780379], [166782220, 166782449], [166783705, 166783709], [166796293, 166796501]] None
NM_001270879 [[166778406, 166778941], [166779461, 166779594], [166780282, 166780379], [166780456, 166780672], [166783705, 166783709], [166796293, 166796501]] [[166778916, 166778941], [166779461, 166779594], [166780282, 166780325]]
NM_016098 [[166778406, 166778941], [166779461, 166779594], [166780282, 166780379], [166783705, 166783709], [166796293, 166796501]] [[166778916, 166778941], [166779461, 166779594], [166780282, 166780379], [166783705, 166783709], [166796293, 166796364]]
Promoter
Chrom Start End Description
chr6 166780340 166780356 CAGE_peak_5_at_BRP44L_5end
chr6 166796384 166796395 CAGE_peak_3_at_BRP44L_5end
chr6 166796415 166796439 CAGE_peak_1_at_BRP44L_5end
chr6 166796461 166796496 CAGE_peak_2_at_BRP44L_5end
chr6 166796498 166796503 CAGE_peak_4_at_BRP44L_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I166412 166412741 166414004 0.52 [{'connected_gene': 'MPC1', 'score': 11.26}, {'connected_gene': 'PRR18', 'score': 10.69}, {'connected_gene': 'PIR48862', 'score': 0.77}, {'connected_gene': 'PIR46600', 'score': 0.44}, {'connected_gene': 'RPS6KA2', 'score': 0.04}]
chr6 GH06I166414 166414435 166415951 0.38 [{'connected_gene': 'MPC1', 'score': 11.26}, {'connected_gene': 'PRR18', 'score': 10.68}, {'connected_gene': 'PIR48862', 'score': 0.77}, {'connected_gene': 'PIR46600', 'score': 0.44}, {'connected_gene': 'RPS6KA2', 'score': 0.04}]
chr6 GH06I166416 166416710 166420870 0.87 [{'connected_gene': 'MPC1', 'score': 11.24}, {'connected_gene': 'PRR18', 'score': 10.93}, {'connected_gene': 'SFT2D1', 'score': 10.64}, {'connected_gene': 'HNRNPA1P49', 'score': 5.53}, {'connected_gene': 'PIR46600', 'score': 0.77}, {'connected_gene': 'PIR48862', 'score': 0.44}, {'connected_gene': 'RPS6KA2', 'score': 0.04}]
chr6 GH06I166351 166351801 166352543 1.07 [{'connected_gene': 'MPC1', 'score': 11.43}, {'connected_gene': 'LOC100289495', 'score': 0.44}, {'connected_gene': 'GC06M166360', 'score': 0.44}]
chr6 GH06I166363 166363543 166367213 0.72 [{'connected_gene': 'PRR18', 'score': 24.73}, {'connected_gene': 'SFT2D1', 'score': 12.6}, {'connected_gene': 'MPC1', 'score': 11.29}, {'connected_gene': 'GC06M166360', 'score': 0.77}]
chr6 GH06I166341 166340553 166340702 0.2 [{'connected_gene': 'SFT2D1', 'score': 550.77}, {'connected_gene': 'MPC1', 'score': 11.88}, {'connected_gene': 'PRR18', 'score': 11.21}, {'connected_gene': 'HNRNPA1P49', 'score': 0.44}]
chr6 GH06I166314 166314989 166316214 0.2 [{'connected_gene': 'SFT2D1', 'score': 21.77}, {'connected_gene': 'MPC1', 'score': 11.65}, {'connected_gene': 'PRR18', 'score': 0.44}, {'connected_gene': 'HNRNPA1P49', 'score': 0.37}]
chr6 GH06I166252 166252801 166254600 0.66 [{'connected_gene': 'SFT2D1', 'score': 8.43}, {'connected_gene': 'MPC1', 'score': 5.23}, {'connected_gene': 'GNG5P1', 'score': 0.39}, {'connected_gene': 'LOC101929297', 'score': 0.37}, {'connected_gene': 'ENSG00000280850', 'score': 0.34}]
chr6 GH06I166317 166317565 166319643 0.95 [{'connected_gene': 'SFT2D1', 'score': 30.42}, {'connected_gene': 'MPC1', 'score': 11.66}, {'connected_gene': 'HNRNPA1P49', 'score': 6.7}, {'connected_gene': 'PRR18', 'score': 0.39}]
chr6 GH06I166257 166257797 166260599 1.23 [{'connected_gene': 'SFT2D1', 'score': 17.77}, {'connected_gene': 'PRR18', 'score': 11.33}, {'connected_gene': 'MPC1', 'score': 8.82}, {'connected_gene': 'GNG5P1', 'score': 0.37}, {'connected_gene': 'ENSG00000280850', 'score': 0.37}]
chr6 GH06I166340 166340971 166343969 2.32 [{'connected_gene': 'SFT2D1', 'score': 574.78}, {'connected_gene': 'LOC100289495', 'score': 550.77}, {'connected_gene': 'MPC1', 'score': 11.88}, {'connected_gene': 'PRR18', 'score': 11.21}, {'connected_gene': 'HNRNPA1P49', 'score': 5.94}]
chr6 GH06I166332 166332850 166334874 1.12 [{'connected_gene': 'HNRNPA1P49', 'score': 556.34}, {'connected_gene': 'MPC1', 'score': 12.17}, {'connected_gene': 'PRR18', 'score': 11.96}, {'connected_gene': 'SFT2D1', 'score': 8.57}]
chr6 GH06I166410 166410812 166412452 0.58 [{'connected_gene': 'PIR48862', 'score': 550.77}, {'connected_gene': 'MPC1', 'score': 11.9}, {'connected_gene': 'PRR18', 'score': 11.08}, {'connected_gene': 'LOC105378120', 'score': 9.71}, {'connected_gene': 'FGFR1OP', 'score': 9.71}, {'connected_gene': 'PIR46600', 'score': 0.39}, {'connected_gene': 'RPS6KA2', 'score': 0.04}]
chr6 GH06I166381 166381037 166384534 2.08 [{'connected_gene': 'ENSG00000261420', 'score': 550.77}, {'connected_gene': 'GC06P166385', 'score': 550.77}, {'connected_gene': 'MPC1', 'score': 550.77}, {'connected_gene': 'HNRNPA1P49', 'score': 14.1}, {'connected_gene': 'PRR18', 'score': 12.23}, {'connected_gene': 'SFT2D1', 'score': 11.81}, {'connected_gene': 'GC06M166360', 'score': 0.34}]
chr6 GH06I166360 166360204 166361693 1.16 [{'connected_gene': 'GC06M166360', 'score': 550.77}, {'connected_gene': 'PRR18', 'score': 25.05}, {'connected_gene': 'MPC1', 'score': 12.03}, {'connected_gene': 'LOC100289495', 'score': 0.37}]