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
ENST00000369159 [[149822642, 149823191]] [[149822680, 149823073]]
NM_003516 [[149813784, 149814318]] [[149813872, 149814265]]
Promoter
Chrom Start End Description
chr1 149822620 149822635 CAGE_peak_1_at_HIST2H2AA3_5end,CAGE_peak_1_at_HIST2H2AA4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I150000 150000575 150004569 0.79 [{'connected_gene': 'SV2A', 'score': 26.68}, {'connected_gene': 'PRPF3', 'score': 22.7}, {'connected_gene': 'HIST2H2AB', 'score': 22.02}, {'connected_gene': 'SF3B4', 'score': 21.4}, {'connected_gene': 'SETDB1', 'score': 18.48}, {'connected_gene': 'RPRD2', 'score': 17.77}, {'connected_gene': 'UBE2D3P3', 'score': 15.05}, {'connected_gene': 'VPS45', 'score': 13.6}, {'connected_gene': 'ARNT', 'score': 12.98}, {'connected_gene': 'MTMR11', 'score': 11.07}, {'connected_gene': 'BOLA1', 'score': 11.04}, {'connected_gene': 'HIST2H2AC', 'score': 11.04}, {'connected_gene': 'HIST2H2BE', 'score': 11.04}, {'connected_gene': 'PLEKHO1', 'score': 10.23}, {'connected_gene': 'HIST2H2AA3', 'score': 4.38}, {'connected_gene': 'OTUD7B', 'score': 0.44}, {'connected_gene': 'PIR49087', 'score': 0.21}]
chr1 GH01I150015 150015734 150018080 1.08 [{'connected_gene': 'SV2A', 'score': 14.17}, {'connected_gene': 'MTMR11', 'score': 7.75}, {'connected_gene': 'ENSG00000261716', 'score': 4.99}, {'connected_gene': 'HIST2H2AA3', 'score': 4.77}, {'connected_gene': 'HIST2H2AB', 'score': 4.47}, {'connected_gene': 'OTUD7B', 'score': 0.44}, {'connected_gene': 'GC01P150029', 'score': 0.39}]
chr1 GH01I150061 150061386 150062280 0.79 [{'connected_gene': 'HIST2H2AC', 'score': 14.66}, {'connected_gene': 'OTUD7B', 'score': 11.24}, {'connected_gene': 'MTMR11', 'score': 11.2}, {'connected_gene': 'PLEKHO1', 'score': 11.04}, {'connected_gene': 'HIST2H2AA3', 'score': 10.32}, {'connected_gene': 'HIST2H2BD', 'score': 10.32}, {'connected_gene': 'SF3B4', 'score': 10.32}, {'connected_gene': 'HIST2H3C', 'score': 10.32}, {'connected_gene': 'HIST2H2BE', 'score': 10.05}, {'connected_gene': 'BOLA1', 'score': 10.05}, {'connected_gene': 'LOC105371427', 'score': 0.44}, {'connected_gene': 'LOC441907', 'score': 0.44}, {'connected_gene': 'GC01M150063', 'score': 0.44}]
chr1 GH01I149840 149840200 149846393 2 [{'connected_gene': 'HIST2H2AA3', 'score': 555.39}, {'connected_gene': 'HIST2H3C', 'score': 550.77}, {'connected_gene': 'GC01P149843', 'score': 550.77}, {'connected_gene': 'HIST2H2BD', 'score': 550.77}, {'connected_gene': 'SV2A', 'score': 20.53}, {'connected_gene': 'HIST2H2AC', 'score': 12.95}, {'connected_gene': 'HIST2H2BE', 'score': 12.95}, {'connected_gene': 'BOLA1', 'score': 12.95}, {'connected_gene': 'MTMR11', 'score': 9.57}, {'connected_gene': 'ENSG00000261716', 'score': 5.25}, {'connected_gene': 'ENSG00000272993', 'score': 0.77}]
chr1 GH01I149846 149846917 149853601 2.2 [{'connected_gene': 'ENSG00000261716', 'score': 555.59}, {'connected_gene': 'HIST2H2AA4', 'score': 550.77}, {'connected_gene': 'GC01M149850', 'score': 550.77}, {'connected_gene': 'HIST2H2BC', 'score': 550.77}, {'connected_gene': 'HIST2H3A', 'score': 550.77}, {'connected_gene': 'HIST2H2AC', 'score': 12.03}, {'connected_gene': 'HIST2H2BE', 'score': 12.03}, {'connected_gene': 'BOLA1', 'score': 12.03}, {'connected_gene': 'MTMR11', 'score': 9.58}, {'connected_gene': 'HIST2H2AA3', 'score': 4.84}, {'connected_gene': 'LOC102723955', 'score': 4.11}]