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
ENST00000297145 [[112459201, 112462428], [112472615, 112472730], [112535623, 112535794], [112555360, 112555502], [112579645, 112579971]] [[112461798, 112462428], [112472615, 112472730], [112535623, 112535794], [112555360, 112555502], [112579645, 112579805]]
ENST00000432572 [[112461691, 112462428], [112472615, 112472730], [112535623, 112535794], [112555360, 112555502], [112575241, 112575319], [112579645, 112579673]] [[112461798, 112462428], [112472615, 112472730], [112535623, 112535794], [112555360, 112555502], [112575241, 112575319], [112579645, 112579673]]
ENST00000485446 [[112462407, 112462428], [112472615, 112472730], [112535623, 112535794], [112555360, 112555502], [112579274, 112579353]] None
NM_152556 [[112459201, 112462428], [112472615, 112472730], [112535623, 112535794], [112555360, 112555502], [112579645, 112579932]] [[112461798, 112462428], [112472615, 112472730], [112535623, 112535794], [112555360, 112555502], [112579645, 112579805]]
Promoter
Chrom Start End Description
chr7 112579802 112579825 CAGE_peak_3_at_C7orf60_5end
chr7 112579828 112579854 CAGE_peak_2_at_C7orf60_5end
chr7 112579869 112579947 CAGE_peak_1_at_C7orf60_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I112930 112930601 112931201 0.74 [{'connected_gene': 'TMEM168', 'score': 10.71}, {'connected_gene': 'BMT2', 'score': 0.44}]
chr7 GH07I112869 112869266 112869455 0.74 [{'connected_gene': 'TMEM168', 'score': 10.88}, {'connected_gene': 'BMT2', 'score': 0.19}]
chr7 GH07I112898 112898600 112898975 1.09 [{'connected_gene': 'TMEM168', 'score': 11.23}, {'connected_gene': 'BMT2', 'score': 0.26}]
chr7 GH07I112877 112877766 112877973 0.44 [{'connected_gene': 'IFRD1', 'score': 3.8}, {'connected_gene': 'BMT2', 'score': 1.82}, {'connected_gene': 'TMEM168', 'score': 0.17}]
chr7 GH07I112881 112881998 112883255 0.46 [{'connected_gene': 'BMT2', 'score': 0.22}, {'connected_gene': 'TMEM168', 'score': 0.16}]
chr7 GH07I112938 112938051 112940987 2.03 [{'connected_gene': 'BMT2', 'score': 550.77}, {'connected_gene': 'SMIM30', 'score': 10.66}, {'connected_gene': 'TMEM168', 'score': 10.54}]
chr7 GH07I112942 112942631 112943665 0.2 [{'connected_gene': 'BMT2', 'score': 0.77}, {'connected_gene': 'HRAT17', 'score': 0.23}]
chr7 GH07I112959 112959359 112959566 0.22 [{'connected_gene': 'BMT2', 'score': 5.6}, {'connected_gene': 'HRAT17', 'score': 0.28}]
chr7 GH07I112021 112021771 112022819 0.52 [{'connected_gene': 'BMT2', 'score': 5.09}, {'connected_gene': 'GC07P112024', 'score': 0.77}, {'connected_gene': 'RPL7AP42', 'score': 0.23}, {'connected_gene': 'DOCK4', 'score': 0.09}]
chr7 GH07I112985 112985118 112987622 0.96 [{'connected_gene': 'HRAT17', 'score': 5.61}, {'connected_gene': 'SMIM30', 'score': 4.32}, {'connected_gene': 'BMT2', 'score': 0.25}]
chr7 GH07I112994 112994057 112997163 0.83 [{'connected_gene': 'HRAT17', 'score': 550.77}, {'connected_gene': 'ENSG00000225457', 'score': 6.22}, {'connected_gene': 'BMT2', 'score': 0.22}]
chr7 GH07I112876 112876391 112877511 0.59 [{'connected_gene': 'LOC101928012', 'score': 5.46}, {'connected_gene': 'BMT2', 'score': 0.21}, {'connected_gene': 'TMEM168', 'score': 0.17}]
chr7 GH07I112988 112988674 112992715 0.38 [{'connected_gene': 'ENSG00000225457', 'score': 6.22}, {'connected_gene': 'HRAT17', 'score': 0.77}, {'connected_gene': 'BMT2', 'score': 0.23}]