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
ENST00000302259 [[103907307, 103909922]] [[103907550, 103908741]]
NM_001001711 [[103907307, 103909922]] [[103907550, 103908741]]
Promoter
Chrom Start End Description
chr11 103907327 103907344 CAGE_peak_2_at_DDI1_5end
chr11 103907353 103907371 CAGE_peak_1_at_DDI1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I104032 104032507 104034319 0.89 [{'connected_gene': 'PDGFD', 'score': 4.19}, {'connected_gene': 'DDI1', 'score': 0.77}, {'connected_gene': 'ENSG00000255548', 'score': 0.17}]
chr11 GH11I104134 104134433 104135062 0.2 [{'connected_gene': 'PDGFD', 'score': 0.31}, {'connected_gene': 'DDI1', 'score': 0.15}]
chr11 GH11I104106 104106493 104106642 0.2 [{'connected_gene': 'PDGFD', 'score': 0.22}, {'connected_gene': 'DDI1', 'score': 0.2}]
chr11 GH11I104162 104162193 104162342 0.2 [{'connected_gene': 'PDGFD', 'score': 0.77}, {'connected_gene': 'DDI1', 'score': 0.13}]
chr11 GH11I104107 104106173 104106342 0.31 [{'connected_gene': 'PDGFD', 'score': 7.94}, {'connected_gene': 'DDI1', 'score': 0.2}]
chr11 GH11I104163 104163000 104165000 2.07 [{'connected_gene': 'PDGFD', 'score': 555.18}, {'connected_gene': 'CASP12', 'score': 14.56}, {'connected_gene': 'DDI1', 'score': 0.13}]
chr11 GH11I104000 104000933 104001082 0.2 [{'connected_gene': 'DDI1', 'score': 11.06}, {'connected_gene': 'PDGFD', 'score': 10.88}, {'connected_gene': 'ENSG00000255548', 'score': 10.59}]
chr11 GH11I103960 103960713 103961839 0.43 [{'connected_gene': 'DDI1', 'score': 11.13}, {'connected_gene': 'PDGFD', 'score': 11.03}, {'connected_gene': 'ENSG00000255548', 'score': 0.37}]
chr11 GH11I104093 104093544 104093750 0.48 [{'connected_gene': 'DDI1', 'score': 0.22}, {'connected_gene': 'PDGFD', 'score': 0.19}]
chr11 GH11I104064 104064401 104064800 0.31 [{'connected_gene': 'DDI1', 'score': 11.58}, {'connected_gene': 'PDGFD', 'score': 11.42}, {'connected_gene': 'ENSG00000255548', 'score': 10.55}]
chr11 GH11I104074 104074000 104074400 0.63 [{'connected_gene': 'DDI1', 'score': 11.23}, {'connected_gene': 'PDGFD', 'score': 11.11}]
chr11 GH11I104043 104043271 104043892 0.46 [{'connected_gene': 'DDI1', 'score': 0.44}, {'connected_gene': 'PDGFD', 'score': 0.13}]
chr11 GH11I104036 104036591 104036650 0.5 [{'connected_gene': 'DDI1', 'score': 550.77}, {'connected_gene': 'PDGFD', 'score': 0.13}]
chr11 GH11I104034 104034990 104035251 0.2 [{'connected_gene': 'DDI1', 'score': 550.77}, {'connected_gene': 'ENSG00000255548', 'score': 0.17}, {'connected_gene': 'PDGFD', 'score': 0.13}]
chr11 GH11I104001 104001167 104002550 0.31 [{'connected_gene': 'DDI1', 'score': 11.37}, {'connected_gene': 'PDGFD', 'score': 11.17}, {'connected_gene': 'ENSG00000255548', 'score': 10.59}]
chr11 GH11I104055 104055273 104055422 0.2 [{'connected_gene': 'DDI1', 'score': 0.37}, {'connected_gene': 'PDGFD', 'score': 0.14}]
chr11 GH11I103958 103958616 103959753 0.74 [{'connected_gene': 'DDI1', 'score': 11.13}, {'connected_gene': 'PDGFD', 'score': 11.02}, {'connected_gene': 'ENSG00000255548', 'score': 0.39}]
chr11 GH11I104090 104090413 104091210 0.2 [{'connected_gene': 'DDI1', 'score': 10.72}, {'connected_gene': 'PDGFD', 'score': 10.68}]
chr11 GH11I104366 104366018 104366433 0.26 [{'connected_gene': 'DDI1', 'score': 20.03}, {'connected_gene': 'MIR7641-1', 'score': 0.14}, {'connected_gene': 'PIR31145', 'score': 0.07}]
chr11 GH11I104152 104152921 104153606 0.38 [{'connected_gene': 'ENSG00000255548', 'score': 10.45}, {'connected_gene': 'PDGFD', 'score': 0.39}, {'connected_gene': 'DDI1', 'score': 0.13}]
chr11 GH11I103987 103987283 103989302 0.46 [{'connected_gene': 'ENSG00000255548', 'score': 11.23}, {'connected_gene': 'DDI1', 'score': 10.86}, {'connected_gene': 'PDGFD', 'score': 10.71}]
chr11 GH11I103993 103993553 103993762 0.2 [{'connected_gene': 'ENSG00000255548', 'score': 10.78}, {'connected_gene': 'DDI1', 'score': 10.49}, {'connected_gene': 'PDGFD', 'score': 10.32}]
chr11 GH11I103943 103943964 103948448 0.2 [{'connected_gene': 'ENSG00000255548', 'score': 550.77}, {'connected_gene': 'DDI1', 'score': 0.16}, {'connected_gene': 'PDGFD', 'score': 0.08}]