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
ENST00000444486 [[19256375, 19256831], [19257363, 19257457], [19257550, 19257684], [19257844, 19257992], [19258506, 19258641], [19260034, 19260238], [19261490, 19261573], [19291494, 19291570], [19293381, 19293492], [19302889, 19302940]] [[19256502, 19256831], [19257363, 19257457], [19257550, 19257684], [19257844, 19257992], [19258506, 19258641], [19260034, 19260238], [19261490, 19261544]]
ENST00000354191 [[19256377, 19256831], [19257363, 19257457], [19257550, 19257684], [19257844, 19257992], [19258506, 19258641], [19260034, 19260238], [19261490, 19261573], [19291494, 19291570], [19293381, 19293492], [19296842, 19296907], [19297701, 19297814], [19302889, 19302967]] [[19291536, 19291570], [19293381, 19293492], [19296842, 19296907], [19297701, 19297814], [19302889, 19302926]]
ENST00000602804 [[19256380, 19256831], [19257081, 19257193], [19257363, 19257457], [19257550, 19257684], [19257844, 19257992], [19258506, 19258641], [19260034, 19260238], [19261490, 19261573], [19291494, 19291570], [19293381, 19293492], [19296842, 19296907], [19297701, 19297814], [19302889, 19302967]] [[19291536, 19291570], [19293381, 19293492], [19296842, 19296907], [19297701, 19297814], [19302889, 19302926]]
ENST00000514819 [[19256392, 19256831], [19257363, 19257457], [19257550, 19257684], [19257844, 19257992], [19258506, 19258641], [19260034, 19260238], [19261490, 19261573], [19293381, 19293492], [19302889, 19302947]] [[19256502, 19256831], [19257363, 19257457], [19257550, 19257684], [19257844, 19257992], [19258506, 19258641], [19260034, 19260238], [19261490, 19261573], [19293381, 19293403]]
ENST00000602276 [[19257676, 19257684], [19257844, 19257992], [19258506, 19258641], [19260034, 19260238], [19261490, 19261573], [19291494, 19291570], [19293102, 19293156]] None
ENST00000602438 [[19260101, 19260238], [19261490, 19261573], [19293381, 19293492], [19296842, 19296907], [19297701, 19297814], [19302889, 19302956]] None
ENST00000602689 [[19261494, 19261573], [19268024, 19268092], [19291494, 19291570], [19293381, 19293492], [19296842, 19296907], [19297701, 19297814], [19302889, 19302931]] [[19291536, 19291570], [19293381, 19293492], [19296842, 19296907], [19297701, 19297814], [19302889, 19302926]]
NR_027307 [[19256375, 19256831], [19257081, 19257193], [19257363, 19257457], [19257550, 19257684], [19257844, 19257992], [19258506, 19258641], [19260034, 19260238], [19261490, 19261573], [19291494, 19291570], [19293381, 19293492], [19296842, 19296907], [19297701, 19297814], [19302889, 19303400]] None
NR_027308 [[19256375, 19256831], [19257363, 19257457], [19257550, 19257684], [19257844, 19257992], [19258506, 19258641], [19260034, 19260238], [19261490, 19261573], [19291494, 19291570], [19293381, 19293492], [19296842, 19296907], [19297701, 19297814], [19302889, 19303400]] None
NM_005919 [[19256375, 19256831], [19257363, 19257457], [19257550, 19257684], [19257844, 19257992], [19258506, 19258641], [19260034, 19260238], [19261490, 19261573], [19291494, 19291570], [19293381, 19293492], [19302889, 19303400]] [[19256502, 19256831], [19257363, 19257457], [19257550, 19257684], [19257844, 19257992], [19258506, 19258641], [19260034, 19260238], [19261490, 19261544]]
Promoter
Chrom Start End Description
chr19 19261486 19261492 CAGE_peak_5_at_MEF2BNB-MEF2B_5end,CAGE_peak_5_at_MEF2B_5end
chr19 19281060 19281078 CAGE_peak_2_at_MEF2BNB-MEF2B_5end,CAGE_peak_2_at_MEF2B_5end
chr19 19302931 19302974 CAGE_peak_1_at_MEF2BNB-MEF2B_5end,CAGE_peak_1_at_MEF2BNB_5end,CAGE_peak_1_at_MEF2B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I019031 19031842 19034910 2.35 [{'connected_gene': 'ARMC6', 'score': 553.37}, {'connected_gene': 'SUGP2', 'score': 552.67}, {'connected_gene': 'ATP13A1', 'score': 27.04}, {'connected_gene': 'TMEM161A', 'score': 26.67}, {'connected_gene': 'MEF2B', 'score': 20.44}, {'connected_gene': 'ENSG00000268030', 'score': 18.92}, {'connected_gene': 'NR2C2AP', 'score': 15.07}, {'connected_gene': 'ENSG00000268938', 'score': 13.86}, {'connected_gene': 'UPF1', 'score': 13.82}, {'connected_gene': 'ENSG00000269191', 'score': 12.52}, {'connected_gene': 'ENSG00000267481', 'score': 12.31}, {'connected_gene': 'MAU2', 'score': 11.93}, {'connected_gene': 'IQCN', 'score': 10.23}, {'connected_gene': 'RFXANK', 'score': 10.17}, {'connected_gene': 'BORCS8', 'score': 10.17}, {'connected_gene': 'BORCS8-MEF2B', 'score': 10.17}, {'connected_gene': 'SLC25A42', 'score': 8.83}, {'connected_gene': 'SUGP1', 'score': 1.99}, {'connected_gene': 'DDX49', 'score': 1.95}, {'connected_gene': 'GC19M018978', 'score': 0.23}]
chr19 GH19I019191 19191185 19194117 2.09 [{'connected_gene': 'BORCS8', 'score': 555.4}, {'connected_gene': 'BORCS8-MEF2B', 'score': 550.77}, {'connected_gene': 'RFXANK', 'score': 550.77}, {'connected_gene': 'UPF1', 'score': 17.61}, {'connected_gene': 'ATP13A1', 'score': 16.23}, {'connected_gene': 'ENSG00000268030', 'score': 15.4}, {'connected_gene': 'MAU2', 'score': 14.99}, {'connected_gene': 'NR2C2AP', 'score': 12.52}, {'connected_gene': 'IQCN', 'score': 11.39}, {'connected_gene': 'ZNF90', 'score': 11.28}, {'connected_gene': 'ENSG00000268938', 'score': 11.08}, {'connected_gene': 'TMEM161A', 'score': 10.88}, {'connected_gene': 'ENSG00000267481', 'score': 10.27}]
chr19 GH19I019160 19160135 19161277 0.69 [{'connected_gene': 'BORCS8', 'score': 5.71}, {'connected_gene': 'MEF2B', 'score': 0.44}, {'connected_gene': 'GC19M019151', 'score': 0.39}, {'connected_gene': 'GC19M019147', 'score': 0.39}, {'connected_gene': 'BORCS8-MEF2B', 'score': 0.29}]
chr19 GH19I019112 19112875 19113541 0.77 [{'connected_gene': 'TMEM161A', 'score': 22.46}, {'connected_gene': 'SLC25A42', 'score': 12.43}, {'connected_gene': 'SUGP2', 'score': 12.03}, {'connected_gene': 'ARMC6', 'score': 12.03}, {'connected_gene': 'MEF2B', 'score': 11.82}, {'connected_gene': 'RFXANK', 'score': 11.78}, {'connected_gene': 'BORCS8', 'score': 11.78}, {'connected_gene': 'BORCS8-MEF2B', 'score': 11.78}, {'connected_gene': 'HAPLN4', 'score': 10.82}, {'connected_gene': 'GC19P020250', 'score': 0.44}, {'connected_gene': 'GC19M019131', 'score': 0.34}]
chr19 GH19I019110 19110401 19111000 0.52 [{'connected_gene': 'TMEM161A', 'score': 13.14}, {'connected_gene': 'SLC25A42', 'score': 12.43}, {'connected_gene': 'SUGP2', 'score': 12.03}, {'connected_gene': 'ARMC6', 'score': 12.03}, {'connected_gene': 'MEF2B', 'score': 11.82}, {'connected_gene': 'RFXANK', 'score': 11.77}, {'connected_gene': 'BORCS8-MEF2B', 'score': 11.77}, {'connected_gene': 'BORCS8', 'score': 11.77}, {'connected_gene': 'HAPLN4', 'score': 10.82}, {'connected_gene': 'GC19P020250', 'score': 0.77}, {'connected_gene': 'GC19M019131', 'score': 0.34}]
chr19 GH19I019039 19039120 19041227 0.96 [{'connected_gene': 'TMEM161A', 'score': 29.03}, {'connected_gene': 'SLC25A42', 'score': 12.81}, {'connected_gene': 'MEF2B', 'score': 10.58}, {'connected_gene': 'RFXANK', 'score': 10.57}, {'connected_gene': 'BORCS8-MEF2B', 'score': 10.57}, {'connected_gene': 'BORCS8', 'score': 10.57}, {'connected_gene': 'HOMER3', 'score': 10.51}, {'connected_gene': 'HAPLN4', 'score': 10.31}, {'connected_gene': 'ARMC6', 'score': 5.7}, {'connected_gene': 'SUGP2', 'score': 4.73}, {'connected_gene': 'GC19M019046', 'score': 0.44}]
chr19 GH19I019333 19333893 19335240 0.4 [{'connected_gene': 'HAPLN4', 'score': 12.04}, {'connected_gene': 'RFXANK', 'score': 11.24}, {'connected_gene': 'BORCS8-MEF2B', 'score': 11.24}, {'connected_gene': 'BORCS8', 'score': 11.24}, {'connected_gene': 'MEF2B', 'score': 11.23}, {'connected_gene': 'MAU2', 'score': 8.17}, {'connected_gene': 'YJEFN3', 'score': 4.58}, {'connected_gene': 'GC19M019332', 'score': 0.44}, {'connected_gene': 'SUGP1', 'score': 0.39}]
chr19 GH19I019090 19090427 19091701 0.46 [{'connected_gene': 'SLC25A42', 'score': 12.19}, {'connected_gene': 'TMEM161A', 'score': 11.12}, {'connected_gene': 'MEF2B', 'score': 10.81}, {'connected_gene': 'RFXANK', 'score': 10.78}, {'connected_gene': 'BORCS8-MEF2B', 'score': 10.78}, {'connected_gene': 'BORCS8', 'score': 10.78}, {'connected_gene': 'GC19P020250', 'score': 0.37}]
chr19 GH19I019094 19094135 19097871 0.93 [{'connected_gene': 'SLC25A42', 'score': 20.8}, {'connected_gene': 'TMEM161A', 'score': 16.37}, {'connected_gene': 'MEF2B', 'score': 10.82}, {'connected_gene': 'BORCS8', 'score': 10.78}, {'connected_gene': 'BORCS8-MEF2B', 'score': 10.78}, {'connected_gene': 'RFXANK', 'score': 10.78}, {'connected_gene': 'ARMC6', 'score': 4.99}, {'connected_gene': 'GC19P020250', 'score': 0.39}]
chr19 GH19I019201 19201912 19204021 1.95 [{'connected_gene': 'NR2C2AP', 'score': 561.28}, {'connected_gene': 'ENSG00000267481', 'score': 16.81}, {'connected_gene': 'MAU2', 'score': 13.78}, {'connected_gene': 'ATP13A1', 'score': 12.93}, {'connected_gene': 'UPF1', 'score': 12.69}, {'connected_gene': 'ENSG00000268938', 'score': 12.64}, {'connected_gene': 'ENSG00000269191', 'score': 12.56}, {'connected_gene': 'ZNF90', 'score': 12.39}, {'connected_gene': 'ZNF14', 'score': 11.96}, {'connected_gene': 'ENSG00000268030', 'score': 11.95}, {'connected_gene': 'ZNF506', 'score': 11.73}, {'connected_gene': 'HAPLN4', 'score': 11.25}, {'connected_gene': 'IQCN', 'score': 10.92}, {'connected_gene': 'ZNF56', 'score': 10.57}, {'connected_gene': 'ZNF486', 'score': 9.76}, {'connected_gene': 'BORCS8-MEF2B', 'score': 0.39}, {'connected_gene': 'BORCS8', 'score': 0.39}]
chr19 GH19I019042 19042783 19043607 0.2 [{'connected_gene': 'MEF2B', 'score': 10.52}, {'connected_gene': 'RFXANK', 'score': 10.51}, {'connected_gene': 'BORCS8-MEF2B', 'score': 10.51}, {'connected_gene': 'BORCS8', 'score': 10.51}, {'connected_gene': 'HOMER3', 'score': 10.5}, {'connected_gene': 'SLC25A42', 'score': 8.87}, {'connected_gene': 'TMEM161A', 'score': 6.59}, {'connected_gene': 'GC19M019046', 'score': 0.44}, {'connected_gene': 'SUGP2', 'score': 0.44}, {'connected_gene': 'ARMC6', 'score': 0.44}]
chr19 GH19I019175 19175092 19175281 0.87 [{'connected_gene': 'MEF2B', 'score': 9.1}, {'connected_gene': 'ZNF90', 'score': 6.17}, {'connected_gene': 'GC19P020240', 'score': 0.39}, {'connected_gene': 'BORCS8-MEF2B', 'score': 0.37}]
chr19 GH19I019171 19171578 19172904 1.12 [{'connected_gene': 'MEF2B', 'score': 559.57}, {'connected_gene': 'ZNF90', 'score': 6.18}, {'connected_gene': 'GC19P020240', 'score': 0.37}, {'connected_gene': 'BORCS8-MEF2B', 'score': 0.34}]
chr19 GH19I019170 19170200 19170441 1.8 [{'connected_gene': 'MEF2B', 'score': 559.14}, {'connected_gene': 'GC19P020240', 'score': 0.37}, {'connected_gene': 'BORCS8-MEF2B', 'score': 0.34}]
chr19 GH19I019053 19053892 19054041 0.72 [{'connected_gene': 'PIR39711', 'score': 550.77}, {'connected_gene': 'ARMC6', 'score': 12.12}, {'connected_gene': 'MEF2B', 'score': 10.68}, {'connected_gene': 'BORCS8', 'score': 10.67}, {'connected_gene': 'BORCS8-MEF2B', 'score': 10.67}, {'connected_gene': 'RFXANK', 'score': 10.67}, {'connected_gene': 'SUGP2', 'score': 4.66}, {'connected_gene': 'GC19M019046', 'score': 0.44}]
chr19 GH19I019145 19145629 19146626 1.02 [{'connected_gene': 'GC19M019151', 'score': 550.77}, {'connected_gene': 'GC19M019147', 'score': 550.77}, {'connected_gene': 'TMEM161A', 'score': 10.11}, {'connected_gene': 'KXD1', 'score': 5.86}, {'connected_gene': 'MEF2B', 'score': 0.34}, {'connected_gene': 'BORCS8-MEF2B', 'score': 0.25}]
chr19 GH19I019342 19342792 19342961 0.95 [{'connected_gene': 'GC19M019332', 'score': 550.77}, {'connected_gene': 'GATAD2A', 'score': 12.67}, {'connected_gene': 'HAPLN4', 'score': 11.55}, {'connected_gene': 'BORCS8', 'score': 11.33}, {'connected_gene': 'BORCS8-MEF2B', 'score': 11.33}, {'connected_gene': 'RFXANK', 'score': 11.33}, {'connected_gene': 'MEF2B', 'score': 11.32}, {'connected_gene': 'GC19P020252', 'score': 0.39}, {'connected_gene': 'MAU2', 'score': 0.34}]
chr19 GH19I019186 19186032 19186201 0.79 [{'connected_gene': 'GC19P020240', 'score': 550.77}, {'connected_gene': 'BORCS8-MEF2B', 'score': 0.44}, {'connected_gene': 'BORCS8', 'score': 0.44}, {'connected_gene': 'MEF2B', 'score': 0.37}]