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
ENST00000585916 [[44388352, 44392575], [44395274, 44395312], [44400895, 44401035], [44407921, 44408093], [44409696, 44409830], [44416319, 44416480], [44424016, 44424090], [44424696, 44424802], [44426669, 44426804], [44435307, 44435398], [44435527, 44435578], [44444126, 44444211], [44470542, 44471017], [44497284, 44497308]] [[44392395, 44392575], [44395274, 44395312], [44400895, 44401035], [44407921, 44408093], [44409696, 44409830], [44416319, 44416480], [44424016, 44424090], [44424696, 44424802], [44426669, 44426804], [44435307, 44435398], [44435527, 44435578], [44444126, 44444211], [44470542, 44471017], [44497284, 44497308]]
ENST00000398654 [[44392242, 44392575], [44395274, 44395312], [44400895, 44401035], [44407921, 44408093], [44409696, 44409830], [44416319, 44416480], [44424016, 44424090], [44424696, 44424802], [44426669, 44426804], [44435307, 44435398], [44435527, 44435578], [44470542, 44471017], [44497284, 44497417]] [[44435528, 44435578], [44470542, 44471017], [44497284, 44497308]]
ENST00000545673 [[44398153, 44398410], [44400895, 44401035], [44407921, 44408093], [44409696, 44409830], [44416319, 44416480], [44424016, 44424090], [44424696, 44424802], [44426669, 44426804], [44435307, 44435398], [44435527, 44435578], [44444126, 44444211], [44497284, 44497468]] [[44398339, 44398410], [44400895, 44401035], [44407921, 44408093], [44409696, 44409830], [44416319, 44416480], [44424016, 44424090], [44424696, 44424793]]
ENST00000324794 [[44398317, 44398410], [44400895, 44401035], [44407921, 44408093], [44409696, 44409830], [44416319, 44416480], [44424016, 44424090], [44424696, 44424802], [44426669, 44426804], [44435307, 44435398], [44435527, 44435578], [44444126, 44444211], [44470542, 44471017], [44497284, 44497466]] [[44398339, 44398410], [44400895, 44401035], [44407921, 44408093], [44409696, 44409830], [44416319, 44416480], [44424016, 44424090], [44424696, 44424802], [44426669, 44426804], [44435307, 44435398], [44435527, 44435578], [44444126, 44444211], [44470542, 44471017], [44497284, 44497308]]
ENST00000592212 [[44407371, 44408093], [44409696, 44409830], [44416319, 44416480], [44424016, 44424090], [44424696, 44424802], [44426669, 44426804], [44435307, 44435398], [44435527, 44435578], [44444126, 44444211], [44470542, 44471017], [44483489, 44483598]] None
ENST00000590127 [[44407720, 44408093], [44409696, 44409830], [44416319, 44416480], [44424016, 44424090], [44424696, 44424802], [44426669, 44426804], [44435307, 44435398], [44435527, 44435578], [44444126, 44444211], [44470542, 44471017], [44497284, 44497437]] None
ENST00000592011 [[44416205, 44416480], [44424016, 44424090], [44424696, 44424802], [44426669, 44426804], [44435307, 44435398], [44435527, 44435578], [44444126, 44444211], [44470542, 44471017], [44500021, 44500123]] None
ENST00000589819 [[44426426, 44426804], [44435307, 44435398], [44435527, 44435578], [44444126, 44444195]] None
ENST00000591865 [[44423813, 44424090], [44424696, 44424934]] None
ENST00000589917 [[44470648, 44471017], [44483489, 44483596], [44500021, 44500106]] [[44470648, 44471014]]
ENST00000586953 [[44470771, 44471017], [44496791, 44497042]] [[44470771, 44471017], [44496791, 44496809]]
ENST00000592221 [[44470856, 44471017], [44483489, 44483596], [44484064, 44484169], [44486189, 44486278], [44497964, 44498004]] [[44470856, 44471017], [44483489, 44483596], [44484064, 44484065]]
ENST00000587810 [[44470856, 44471017], [44483489, 44483596], [44486189, 44486278], [44500021, 44500111]] [[44470856, 44471017], [44483489, 44483596], [44486189, 44486208]]
ENST00000586170 [[44470994, 44471017], [44473393, 44473494], [44483489, 44483598], [44497284, 44497383]] None
ENST00000586634 [[44485722, 44486278], [44497284, 44497313]] None
ENST00000590944 [[44487460, 44487522], [44487620, 44487962]] None
NM_001324049 [[44383186, 44392575], [44395274, 44395312], [44400895, 44401035], [44407921, 44408093], [44409696, 44409830], [44416319, 44416480], [44424016, 44424090], [44424696, 44424802], [44426669, 44426804], [44435307, 44435398], [44435527, 44435578], [44444126, 44444211], [44470542, 44471017], [44482397, 44482520], [44483489, 44483598], [44486189, 44486278], [44497284, 44497495]] [[44392395, 44392575], [44395274, 44395312], [44400895, 44401035], [44407921, 44408093], [44409696, 44409830], [44416319, 44416480], [44424016, 44424090], [44424696, 44424802], [44426669, 44426804], [44435307, 44435398], [44435527, 44435578], [44444126, 44444211], [44470542, 44471014]]
NM_001324048 [[44383186, 44392575], [44395274, 44395312], [44400895, 44401035], [44407921, 44408093], [44409696, 44409830], [44416319, 44416480], [44424016, 44424090], [44424696, 44424802], [44426669, 44426804], [44435307, 44435398], [44435527, 44435578], [44444126, 44444211], [44470542, 44471017], [44483489, 44483598], [44486189, 44486278], [44497284, 44497495]] [[44392395, 44392575], [44395274, 44395312], [44400895, 44401035], [44407921, 44408093], [44409696, 44409830], [44416319, 44416480], [44424016, 44424090], [44424696, 44424802], [44426669, 44426804], [44435307, 44435398], [44435527, 44435578], [44444126, 44444211], [44470542, 44471014]]
NM_001324046 [[44383186, 44392549], [44395274, 44395312], [44400895, 44401035], [44407921, 44408093], [44409696, 44409830], [44416319, 44416480], [44424016, 44424090], [44424696, 44424802], [44426669, 44426804], [44435307, 44435398], [44435527, 44435578], [44444126, 44444211], [44470542, 44471017], [44483489, 44483598], [44486189, 44486278], [44497284, 44497495]] [[44392492, 44392549], [44395274, 44395312], [44400895, 44401035], [44407921, 44408093], [44409696, 44409830], [44416319, 44416480], [44424016, 44424090], [44424696, 44424802], [44426669, 44426804], [44435307, 44435398], [44435527, 44435578], [44444126, 44444211], [44470542, 44471014]]
NM_001324047 [[44383186, 44392578], [44395274, 44395312], [44400895, 44401035], [44407921, 44408093], [44409696, 44409830], [44416319, 44416480], [44424016, 44424090], [44424696, 44424802], [44426669, 44426804], [44435307, 44435398], [44435527, 44435578], [44444126, 44444211], [44470542, 44471017], [44483489, 44483598], [44497284, 44497495]] [[44392395, 44392578], [44395274, 44395312], [44400895, 44401035], [44407921, 44408093], [44409696, 44409830], [44416319, 44416480], [44424016, 44424090], [44424696, 44424802], [44426669, 44426804], [44435307, 44435398], [44435527, 44435578], [44444126, 44444211], [44470542, 44471014]]
NM_004671 [[44383186, 44392575], [44395274, 44395312], [44400895, 44401035], [44407921, 44408093], [44409696, 44409830], [44416319, 44416480], [44424016, 44424090], [44424696, 44424802], [44426669, 44426804], [44435307, 44435398], [44435527, 44435578], [44444126, 44444211], [44470542, 44471017], [44497284, 44497495]] [[44392395, 44392575], [44395274, 44395312], [44400895, 44401035], [44407921, 44408093], [44409696, 44409830], [44416319, 44416480], [44424016, 44424090], [44424696, 44424802], [44426669, 44426804], [44435307, 44435398], [44435527, 44435578], [44444126, 44444211], [44470542, 44471017], [44497284, 44497308]]
NR_136684 [[44383186, 44392575], [44395274, 44395312], [44400895, 44401035], [44407921, 44408093], [44409696, 44409830], [44416319, 44416480], [44424016, 44424090], [44424696, 44424802], [44426669, 44426804], [44435307, 44435398], [44435527, 44435578], [44470542, 44471017], [44497284, 44497495]] None
NM_001324053 [[44395672, 44398410], [44400895, 44401035], [44407921, 44408093], [44409696, 44409830], [44416319, 44416480], [44424016, 44424090], [44424696, 44424802], [44426669, 44426804], [44435307, 44435398], [44435527, 44435578], [44444126, 44444211], [44470542, 44471017], [44474773, 44475033], [44483489, 44483598], [44486189, 44486278], [44497284, 44497495]] [[44398339, 44398410], [44400895, 44401035], [44407921, 44408093], [44409696, 44409830], [44416319, 44416480], [44424016, 44424090], [44424696, 44424802], [44426669, 44426804], [44435307, 44435398], [44435527, 44435578], [44444126, 44444211], [44470542, 44471014]]
NM_001324052 [[44395672, 44398410], [44400895, 44401035], [44407921, 44408093], [44409696, 44409830], [44416319, 44416480], [44424016, 44424090], [44424696, 44424802], [44426669, 44426804], [44435307, 44435398], [44435527, 44435578], [44444126, 44444211], [44470542, 44471017], [44473393, 44473494], [44483489, 44483598], [44486189, 44486278], [44497284, 44497495]] [[44398339, 44398410], [44400895, 44401035], [44407921, 44408093], [44409696, 44409830], [44416319, 44416480], [44424016, 44424090], [44424696, 44424802], [44426669, 44426804], [44435307, 44435398], [44435527, 44435578], [44444126, 44444211], [44470542, 44471014]]
NM_001324054 [[44395672, 44398410], [44400895, 44401035], [44407921, 44408093], [44409696, 44409830], [44416319, 44416480], [44424016, 44424090], [44424696, 44424802], [44426669, 44426804], [44435307, 44435398], [44435527, 44435578], [44444126, 44444211], [44470542, 44471017], [44486189, 44486278], [44497284, 44497495]] [[44398339, 44398410], [44400895, 44401035], [44407921, 44408093], [44409696, 44409830], [44416319, 44416480], [44424016, 44424090], [44424696, 44424802], [44426669, 44426804], [44435307, 44435398], [44435527, 44435578], [44444126, 44444211], [44470542, 44471014]]
NM_001324051 [[44395672, 44398410], [44400895, 44401035], [44407921, 44408093], [44409696, 44409830], [44416319, 44416480], [44424016, 44424090], [44424696, 44424802], [44426669, 44426804], [44435307, 44435398], [44435527, 44435578], [44444126, 44444211], [44470542, 44471017], [44483489, 44483598], [44497284, 44497495]] [[44398339, 44398410], [44400895, 44401035], [44407921, 44408093], [44409696, 44409830], [44416319, 44416480], [44424016, 44424090], [44424696, 44424802], [44426669, 44426804], [44435307, 44435398], [44435527, 44435578], [44444126, 44444211], [44470542, 44471014]]
NM_173206 [[44395672, 44398410], [44400895, 44401035], [44407921, 44408093], [44409696, 44409830], [44416319, 44416480], [44424016, 44424090], [44424696, 44424802], [44426669, 44426804], [44435307, 44435398], [44435527, 44435578], [44444126, 44444211], [44470542, 44471017], [44497284, 44497495]] [[44398339, 44398410], [44400895, 44401035], [44407921, 44408093], [44409696, 44409830], [44416319, 44416480], [44424016, 44424090], [44424696, 44424802], [44426669, 44426804], [44435307, 44435398], [44435527, 44435578], [44444126, 44444211], [44470542, 44471017], [44497284, 44497308]]
NR_136685 [[44395672, 44398410], [44400895, 44401035], [44407921, 44408093], [44409696, 44409830], [44416319, 44416480], [44424016, 44424090], [44424696, 44424802], [44426669, 44426804], [44435307, 44435398], [44435527, 44435578], [44444126, 44444211], [44497284, 44497495]] None
NM_001324055 [[44403248, 44408093], [44409696, 44409830], [44416319, 44416480], [44424016, 44424090], [44424696, 44424802], [44426669, 44426804], [44435307, 44435398], [44435527, 44435578], [44444126, 44444211], [44470542, 44471017], [44483489, 44483598], [44486170, 44486278], [44497284, 44497495]] [[44407905, 44408093], [44409696, 44409830], [44416319, 44416480], [44424016, 44424090], [44424696, 44424802], [44426669, 44426804], [44435307, 44435398], [44435527, 44435578], [44444126, 44444211], [44470542, 44471014]]
NM_001324057 [[44403248, 44408093], [44409696, 44409830], [44416319, 44416480], [44424016, 44424090], [44424696, 44424802], [44426669, 44426804], [44435307, 44435398], [44435527, 44435578], [44444126, 44444211], [44470542, 44471017], [44473393, 44473494], [44483489, 44483598], [44486189, 44486278], [44497284, 44497495]] [[44407905, 44408093], [44409696, 44409830], [44416319, 44416480], [44424016, 44424090], [44424696, 44424802], [44426669, 44426804], [44435307, 44435398], [44435527, 44435578], [44444126, 44444211], [44470542, 44471014]]
NM_001324059 [[44403248, 44408093], [44409696, 44409830], [44416319, 44416480], [44424016, 44424090], [44424696, 44424802], [44426669, 44426804], [44435307, 44435398], [44435527, 44435578], [44444126, 44444211], [44470542, 44471017], [44483489, 44483598], [44486189, 44486278], [44497284, 44497495]] [[44407905, 44408093], [44409696, 44409830], [44416319, 44416480], [44424016, 44424090], [44424696, 44424802], [44426669, 44426804], [44435307, 44435398], [44435527, 44435578], [44444126, 44444211], [44470542, 44471014]]
NM_001324058 [[44403248, 44408093], [44409696, 44409830], [44416319, 44416480], [44424016, 44424090], [44424696, 44424802], [44426669, 44426804], [44435307, 44435398], [44435527, 44435578], [44444126, 44444211], [44470542, 44471017], [44497284, 44497495]] [[44407905, 44408093], [44409696, 44409830], [44416319, 44416480], [44424016, 44424090], [44424696, 44424802], [44426669, 44426804], [44435307, 44435398], [44435527, 44435578], [44444126, 44444211], [44470542, 44471017], [44497284, 44497308]]
NM_001324060 [[44416208, 44416480], [44424016, 44424090], [44424696, 44424802], [44426669, 44426804], [44435307, 44435398], [44435527, 44435578], [44444126, 44444211], [44470542, 44471017], [44500021, 44500130]] [[44416315, 44416480], [44424016, 44424090], [44424696, 44424802], [44426669, 44426804], [44435307, 44435398], [44435527, 44435578], [44444126, 44444211], [44470542, 44471017], [44500021, 44500057]]
Promoter
Chrom Start End Description
chr18 44497395 44497499 CAGE_peak_1_at_PIAS2_5end
chr18 44500088 44500095 CAGE_peak_6_at_PIAS2_5end
chr18 44500101 44500115 CAGE_peak_2_at_PIAS2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr18 GH18I046768 46768598 46768747 0.2 [{'connected_gene': 'PIAS2', 'score': 10.67}, {'connected_gene': 'IER3IP1', 'score': 5.82}, {'connected_gene': 'ST8SIA5', 'score': 0.44}, {'connected_gene': 'LOC105372097', 'score': 0.39}, {'connected_gene': 'ENSG00000274776', 'score': 0.34}]
chr18 GH18I046792 46792175 46792443 0.26 [{'connected_gene': 'PIAS2', 'score': 12.55}, {'connected_gene': 'RNF165', 'score': 1.87}, {'connected_gene': 'ENSG00000274776', 'score': 0.77}, {'connected_gene': 'GC18P046803', 'score': 0.39}]
chr18 GH18I046767 46767876 46768270 0.31 [{'connected_gene': 'PIAS2', 'score': 10.67}, {'connected_gene': 'LOC105372097', 'score': 9.02}, {'connected_gene': 'ST8SIA5', 'score': 0.44}, {'connected_gene': 'ENSG00000274776', 'score': 0.34}]
chr18 GH18I046806 46806324 46806384 0.23 [{'connected_gene': 'HDHD2', 'score': 1.53}, {'connected_gene': 'GC18P046803', 'score': 0.77}, {'connected_gene': 'GC18M046804', 'score': 0.77}, {'connected_gene': 'GC18P046836', 'score': 0.31}, {'connected_gene': 'PIAS2', 'score': 0.14}]
chr18 GH18I046916 46916000 46918893 1.94 [{'connected_gene': 'KATNAL2', 'score': 563.91}, {'connected_gene': 'ENSG00000279354', 'score': 550.77}, {'connected_gene': 'PIAS2', 'score': 550.77}, {'connected_gene': 'HDHD2', 'score': 6.94}, {'connected_gene': 'LOC105372097', 'score': 5.9}]
chr18 GH18I046898 46898798 46900105 0.38 [{'connected_gene': 'ELOA2', 'score': 10.37}, {'connected_gene': 'ELOA3', 'score': 10.37}, {'connected_gene': 'IER3IP1', 'score': 7.75}, {'connected_gene': 'HDHD2', 'score': 6.66}, {'connected_gene': 'ENSG00000279354', 'score': 0.37}, {'connected_gene': 'PIAS2', 'score': 0.34}, {'connected_gene': 'LOC100421737', 'score': 0.26}]
chr18 GH18I046710 46710619 46713317 1 [{'connected_gene': 'ST8SIA5', 'score': 19.39}, {'connected_gene': 'PIAS2', 'score': 10.09}, {'connected_gene': 'RPS21P6', 'score': 0.39}, {'connected_gene': 'LOC105372096', 'score': 0.25}]
chr18 GH18I046754 46754401 46758324 1.44 [{'connected_gene': 'LOC105372097', 'score': 567.23}, {'connected_gene': 'ST8SIA5', 'score': 550.77}, {'connected_gene': 'PIAS2', 'score': 10.39}, {'connected_gene': 'HDHD2', 'score': 6.55}, {'connected_gene': 'IER3IP1', 'score': 5.82}, {'connected_gene': 'RPS21P6', 'score': 0.29}]
chr18 GH18I046859 46859458 46859607 0.38 [{'connected_gene': 'LOC100421737', 'score': 0.77}, {'connected_gene': 'GC18P046836', 'score': 0.34}, {'connected_gene': 'ENSG00000279354', 'score': 0.22}, {'connected_gene': 'PIAS2', 'score': 0.21}]
chr18 GH18I047243 47243900 47244913 0.83 [{'connected_gene': 'GC18P047244', 'score': 550.77}, {'connected_gene': 'ENSG00000267724', 'score': 10.4}, {'connected_gene': 'HDHD2', 'score': 9.33}, {'connected_gene': 'PIAS2', 'score': 6.9}, {'connected_gene': 'SKOR2', 'score': 0.44}, {'connected_gene': 'GC18M047235', 'score': 0.44}, {'connected_gene': 'RNU6-1131P', 'score': 0.44}, {'connected_gene': 'GC18P047085', 'score': 0.1}]
chr18 GH18I046790 46790260 46790600 0.24 [{'connected_gene': 'ENSG00000274776', 'score': 550.77}, {'connected_gene': 'KATNAL2', 'score': 14.07}, {'connected_gene': 'PIAS2', 'score': 13.45}, {'connected_gene': 'RNF165', 'score': 1.36}, {'connected_gene': 'GC18P046803', 'score': 0.39}]
chr18 GH18I047235 47235778 47235796 0.37 [{'connected_gene': 'GC18M047235', 'score': 550.77}, {'connected_gene': 'RNU6-1131P', 'score': 550.77}, {'connected_gene': 'KATNAL2', 'score': 4.32}, {'connected_gene': 'PIAS2', 'score': 1.2}, {'connected_gene': 'GC18P047244', 'score': 0.44}, {'connected_gene': 'SKOR2', 'score': 0.37}, {'connected_gene': 'GC18P047085', 'score': 0.1}]