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
ENST00000476666 [[51928212, 51928472], [51939838, 51939981], [51941940, 51942034], [51943074, 51943267]] None
ENST00000469430 [[51939334, 51939981], [51941940, 51942034], [51943074, 51943446], [51948343, 51948575], [51948789, 51948932], [51950183, 51950310], [51952374, 51952590], [51953597, 51953708], [51956164, 51956259], [51957464, 51957597], [51957724, 51957877], [51961521, 51961676], [51963454, 51963580], [51969435, 51969619], [51995247, 51995470], [51997165, 51997226], [52004429, 52004519], [52025160, 52025310], [52026113, 52026191], [52026550, 52026927]] [[51997199, 51997226], [52004429, 52004519], [52025160, 52025310], [52026113, 52026191], [52026550, 52026661]]
ENST00000311234 [[51939362, 51939981], [51941940, 51942034], [51943074, 51943446], [51948343, 51948575], [51948789, 51948932], [51950183, 51950310], [51952374, 51952590], [51953597, 51953708], [51956164, 51956259], [51957464, 51957597], [51957724, 51957877], [51961521, 51961676], [51963454, 51963580], [51969435, 51969619], [52004429, 52004519], [52025160, 52025310], [52026113, 52026191], [52026550, 52027134]] [[51939887, 51939981], [51941940, 51942034], [51943074, 51943446], [51948343, 51948575], [51948789, 51948932], [51950183, 51950310], [51952374, 51952590], [51953597, 51953708], [51956164, 51956259], [51957464, 51957597], [51957724, 51957877], [51961521, 51961676], [51963454, 51963580], [51969435, 51969619], [52004429, 52004519], [52025160, 52025310], [52026113, 52026191], [52026550, 52026661]]
ENST00000398119 [[51939362, 51939981], [51941940, 51942034], [51943074, 51943446], [51948343, 51948575], [51948789, 51948932], [51950183, 51950310], [51952374, 51952590], [51953597, 51953708], [51956164, 51956259], [51957464, 51957597], [51957724, 51957877], [51961521, 51961676], [51963454, 51963580], [51969435, 51969619], [52004429, 52004519], [52025160, 52025310], [52026113, 52026191], [52026550, 52026636], [52027128, 52027343]] [[51939887, 51939981], [51941940, 51942034], [51943074, 51943446], [51948343, 51948575], [51948789, 51948932], [51950183, 51950310], [51952374, 51952590], [51953597, 51953708], [51956164, 51956259], [51957464, 51957597], [51957724, 51957877], [51961521, 51961676], [51963454, 51963580], [51969435, 51969619], [52004429, 52004519], [52025160, 52025310], [52026113, 52026191], [52026550, 52026622]]
ENST00000497989 [[51939363, 51939981], [51941940, 51942034], [51943074, 51943446], [51948343, 51948575], [51948789, 51948932], [51950183, 51950310], [51952374, 51952590], [51953597, 51953708], [51956164, 51956259], [51957464, 51957597], [51957724, 51957877], [51961521, 51961676], [51963454, 51963580], [51969435, 51969619], [51995247, 51995510]] [[51939887, 51939981], [51941940, 51942034], [51943074, 51943446], [51948343, 51948575], [51948789, 51948932], [51950183, 51950310], [51952374, 51952590], [51953597, 51953708], [51956164, 51956259], [51957464, 51957597], [51957724, 51957877], [51961521, 51961676], [51963454, 51963580], [51969435, 51969514]]
ENST00000483441 [[51939638, 51939981], [51941940, 51942034], [51943074, 51943446], [51948343, 51948575], [51948789, 51948932], [51950183, 51950310], [51952374, 51952590], [51953597, 51953708], [51956164, 51956259], [51957464, 51957597], [51957724, 51958827]] None
ENST00000425000 [[51939782, 51939981], [51941940, 51942034], [51943074, 51943446], [51948343, 51948575], [51948789, 51948932], [51950183, 51950310], [51952374, 51952590], [51953597, 51953708], [51957464, 51957597], [51957724, 51957877], [51961521, 51961676], [51963454, 51963580], [51969435, 51969619], [52004429, 52004519], [52025160, 52025310], [52026113, 52026191], [52026550, 52027172]] [[51939887, 51939981], [51941940, 51942034], [51943074, 51943446], [51948343, 51948575], [51948789, 51948932], [51950183, 51950310], [51952374, 51952590], [51953597, 51953687]]
ENST00000490542 [[51939871, 51939981], [51941940, 51942034], [51943074, 51943446], [51948343, 51948575], [51948789, 51948932], [51950183, 51950310], [51952374, 51952590], [51953597, 51953708], [51956164, 51956259], [51957464, 51957597], [51957724, 51957877], [51958879, 51959400]] [[51939887, 51939981], [51941940, 51942034], [51943074, 51943446], [51948343, 51948575], [51948789, 51948932], [51950183, 51950310], [51952374, 51952590], [51953597, 51953708], [51956164, 51956259], [51957464, 51957597], [51957724, 51957823]]
ENST00000463928 [[51941996, 51942034], [51943074, 51943446], [51948343, 51948373], [51961555, 51961676], [51963454, 51963580], [51969435, 51969619], [52004429, 52004519], [52025160, 52025310], [52026113, 52026191], [52026550, 52027172]] [[51948363, 51948373], [51961555, 51961676], [51963454, 51963580], [51969435, 51969619], [52004429, 52004519], [52025160, 52025310], [52026113, 52026191], [52026550, 52026661]]
ENST00000493153 [[51953644, 51953708], [51956164, 51956259], [51957464, 51957877]] None
ENST00000483746 [[51953677, 51953708], [51956164, 51956259], [51957464, 51957597], [51957724, 51957877], [51958772, 51958843]] [[51953677, 51953708], [51956164, 51956259], [51957464, 51957597], [51957724, 51957877], [51958772, 51958823]]
ENST00000460868 [[51956164, 51956259], [51957464, 51957597], [51957724, 51957877], [51958508, 51958831]] None
ENST00000420668 [[51957789, 51957877], [51961521, 51961676], [51963454, 51963580], [52004429, 52004519], [52025160, 52025310], [52026113, 52026191], [52026550, 52026766]] [[51963496, 51963580], [52004429, 52004519], [52025160, 52025310], [52026113, 52026191], [52026550, 52026661]]
ENST00000486195 [[51961521, 51961676], [52004429, 52004519], [52025160, 52025310], [52026113, 52026191], [52026386, 52026468]] None
ENST00000491189 [[51969434, 51969619], [52004429, 52004519], [52025160, 52025310], [52025632, 52025703]] [[51969434, 51969619], [52004429, 52004519], [52025160, 52025280]]
ENST00000466784 [[51976664, 51976939], [51995247, 51995470], [51997165, 51997226]] None
ENST00000491723 [[51995311, 51995470], [52004429, 52004519], [52025160, 52025310], [52026113, 52026191], [52026550, 52026786]] None
ENST00000461515 [[51997138, 51997226], [52004429, 52004519], [52025160, 52025310], [52026113, 52026387]] None
ENST00000491997 [[51997165, 51997226], [52004429, 52004519], [52025160, 52025310], [52025444, 52025703]] [[51997199, 51997226], [52004429, 52004519], [52025160, 52025280]]
ENST00000488009 [[52004370, 52004519], [52025160, 52025310], [52025557, 52025710]] [[52004370, 52004519], [52025160, 52025280]]
ENST00000485178 [[52004429, 52004519], [52025160, 52025310], [52026113, 52026191], [52026550, 52026636], [52027658, 52027728]] [[52004429, 52004519], [52025160, 52025310], [52026113, 52026191], [52026550, 52026622]]
ENST00000483288 [[52004440, 52004519], [52025160, 52025310], [52026113, 52026191], [52026550, 52026636], [52028196, 52028400]] [[52004440, 52004519], [52025160, 52025310], [52026113, 52026191], [52026550, 52026622]]
ENST00000478566 [[52023619, 52025310], [52026113, 52026191], [52026550, 52027151]] None
ENST00000442263 [[52023619, 52025310], [52026113, 52026191], [52026550, 52027275]] [[52025151, 52025310], [52026113, 52026191], [52026550, 52026661]]
NM_001306091 [[51935700, 51939981], [51941940, 51942034], [51943074, 51943446], [51948343, 51948575], [51948789, 51948932], [51950183, 51950310], [51952374, 51952590], [51953597, 51953708], [51956164, 51956259], [51957464, 51957597], [51957724, 51957877], [51961521, 51961676], [51963454, 51963580], [51969435, 51969619], [51995247, 51995470], [51997165, 51997226], [52004429, 52004519], [52025160, 52025310], [52026113, 52026191], [52026550, 52027275]] [[51939887, 51939981], [51941940, 51942034], [51943074, 51943446], [51948343, 51948575], [51948789, 51948932], [51950183, 51950310], [51952374, 51952590], [51953597, 51953708], [51956164, 51956259], [51957464, 51957597], [51957724, 51957877], [51961521, 51961676], [51963454, 51963580], [51969435, 51969514]]
NM_012141 [[51935700, 51939981], [51941940, 51942034], [51943074, 51943446], [51948343, 51948575], [51948789, 51948932], [51950183, 51950310], [51952374, 51952590], [51953597, 51953708], [51956164, 51956259], [51957464, 51957597], [51957724, 51957877], [51961521, 51961676], [51963454, 51963580], [51969435, 51969619], [52004429, 52004519], [52025160, 52025310], [52026113, 52026191], [52026550, 52027275]] [[51939887, 51939981], [51941940, 51942034], [51943074, 51943446], [51948343, 51948575], [51948789, 51948932], [51950183, 51950310], [51952374, 51952590], [51953597, 51953708], [51956164, 51956259], [51957464, 51957597], [51957724, 51957877], [51961521, 51961676], [51963454, 51963580], [51969435, 51969619], [52004429, 52004519], [52025160, 52025310], [52026113, 52026191], [52026550, 52026661]]
NM_001039937 [[51935700, 51939981], [51941940, 51942034], [51943074, 51943446], [51948343, 51948575], [51948789, 51948932], [51950183, 51950310], [51952374, 51952590], [51953597, 51953708], [51956164, 51956259], [51957464, 51957597], [51957724, 51957877], [51961521, 51961676], [51963454, 51963580], [51969435, 51969619], [52004429, 52004519], [52025160, 52025310], [52026113, 52026191], [52026550, 52026636], [52027128, 52027275]] [[51939887, 51939981], [51941940, 51942034], [51943074, 51943446], [51948343, 51948575], [51948789, 51948932], [51950183, 51950310], [51952374, 51952590], [51953597, 51953708], [51956164, 51956259], [51957464, 51957597], [51957724, 51957877], [51961521, 51961676], [51963454, 51963580], [51969435, 51969619], [52004429, 52004519], [52025160, 52025310], [52026113, 52026191], [52026550, 52026622]]
NM_001039938 [[52023619, 52025310], [52026113, 52026191], [52026550, 52027275]] [[52025151, 52025310], [52026113, 52026191], [52026550, 52026661]]
Promoter
Chrom Start End Description
chr13 52026226 52026245 CAGE_peak_9_at_INTS6_5end
chr13 52026657 52026674 CAGE_peak_7_at_INTS6_5end
chr13 52026730 52026775 CAGE_peak_3_at_INTS6_5end
chr13 52026782 52026796 CAGE_peak_8_at_INTS6_5end
chr13 52026813 52026829 CAGE_peak_4_at_INTS6_5end
chr13 52026921 52026948 CAGE_peak_11_at_INTS6_5end
chr13 52027062 52027077 CAGE_peak_13_at_INTS6_5end
chr13 52027161 52027179 CAGE_peak_1_at_INTS6_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I051421 51421032 51421550 0.43 [{'connected_gene': 'DHRS12', 'score': 10.17}, {'connected_gene': 'ENSG00000231856', 'score': 10.17}, {'connected_gene': 'INTS6', 'score': 0.29}, {'connected_gene': 'INTS6-AS1', 'score': 0.29}, {'connected_gene': 'GC13M051362', 'score': 0.22}]
chr13 GH13I051435 51435145 51435254 0.52 [{'connected_gene': 'DHRS12', 'score': 11.27}, {'connected_gene': 'ENSG00000231856', 'score': 11.27}, {'connected_gene': 'INTS6', 'score': 0.37}, {'connected_gene': 'INTS6-AS1', 'score': 0.37}, {'connected_gene': 'GC13M051362', 'score': 0.19}]
chr13 GH13I051425 51425125 51426405 0.46 [{'connected_gene': 'DHRS12', 'score': 10.25}, {'connected_gene': 'ENSG00000231856', 'score': 10.25}, {'connected_gene': 'FAM124A', 'score': 10.02}, {'connected_gene': 'NEK5', 'score': 9.96}, {'connected_gene': 'INTS6', 'score': 0.31}, {'connected_gene': 'INTS6-AS1', 'score': 0.31}, {'connected_gene': 'GC13M051362', 'score': 0.21}]
chr13 GH13I051397 51397188 51397801 0.94 [{'connected_gene': 'DHRS12', 'score': 9.7}, {'connected_gene': 'ENSG00000231856', 'score': 9.7}, {'connected_gene': 'FAM124A', 'score': 9.64}, {'connected_gene': 'GC13M051362', 'score': 0.29}, {'connected_gene': 'INTS6-AS1', 'score': 0.23}, {'connected_gene': 'INTS6', 'score': 0.22}]
chr13 GH13I051818 51818862 51819800 1.29 [{'connected_gene': 'DHRS12', 'score': 12.0}, {'connected_gene': 'WDFY2', 'score': 9.9}, {'connected_gene': 'INTS6', 'score': 7.0}, {'connected_gene': 'TMEM272', 'score': 0.31}]
chr13 GH13I051532 51532579 51535713 0.97 [{'connected_gene': 'DHRS12', 'score': 14.54}, {'connected_gene': 'ENSG00000231856', 'score': 9.88}, {'connected_gene': 'WDFY2', 'score': 4.87}, {'connected_gene': 'INTS6', 'score': 1.52}, {'connected_gene': 'MIR4703', 'score': 0.37}, {'connected_gene': 'SNRPGP11', 'score': 0.28}, {'connected_gene': 'INTS6-AS1', 'score': 0.18}]
chr13 GH13I051642 51642308 51647295 1.56 [{'connected_gene': 'DHRS12', 'score': 15.45}, {'connected_gene': 'ENSG00000231856', 'score': 10.27}, {'connected_gene': 'WDFY2', 'score': 6.85}, {'connected_gene': 'INTS6', 'score': 3.91}, {'connected_gene': 'ATP5PBP1', 'score': 0.25}, {'connected_gene': 'PIR45932', 'score': 0.14}]
chr13 GH13I051801 51801362 51805577 2.45 [{'connected_gene': 'DHRS12', 'score': 553.41}, {'connected_gene': 'ENSG00000231856', 'score': 550.77}, {'connected_gene': 'WDFY2', 'score': 8.9}, {'connected_gene': 'INTS6', 'score': 2.51}, {'connected_gene': 'PIR35271', 'score': 0.31}]
chr13 GH13I050945 50945439 50947536 0.43 [{'connected_gene': 'RNASEH2B', 'score': 5.28}, {'connected_gene': 'INTS6', 'score': 4.64}, {'connected_gene': 'GC13M050955', 'score': 0.44}, {'connected_gene': 'GC13M050954', 'score': 0.44}, {'connected_gene': 'GC13P050938', 'score': 0.44}]
chr13 GH13I050876 50876990 50878106 0.2 [{'connected_gene': 'RNASEH2B', 'score': 22.4}, {'connected_gene': 'DLEU7', 'score': 12.18}, {'connected_gene': 'RNASEH2B-AS1', 'score': 11.7}, {'connected_gene': 'DLEU7-AS1', 'score': 11.06}, {'connected_gene': 'INTS6', 'score': 4.76}, {'connected_gene': 'GC13P050857', 'score': 0.34}]
chr13 GH13I050885 50885117 50886268 0.2 [{'connected_gene': 'RNASEH2B', 'score': 28.7}, {'connected_gene': 'RNASEH2B-AS1', 'score': 11.6}, {'connected_gene': 'DLEU7', 'score': 11.23}, {'connected_gene': 'INTS6', 'score': 5.52}, {'connected_gene': 'GC13P050857', 'score': 0.31}]
chr13 GH13I050908 50908109 50918118 2.69 [{'connected_gene': 'RNASEH2B', 'score': 617.54}, {'connected_gene': 'RNASEH2B-AS1', 'score': 27.57}, {'connected_gene': 'DLEU7-AS1', 'score': 10.78}, {'connected_gene': 'DLEU7', 'score': 10.69}, {'connected_gene': 'KCNRG', 'score': 10.44}, {'connected_gene': 'SERPINE3', 'score': 10.23}, {'connected_gene': 'TRIM13', 'score': 10.11}, {'connected_gene': 'RPS4XP16', 'score': 9.93}, {'connected_gene': 'INTS6', 'score': 4.74}, {'connected_gene': 'GC13M050919', 'score': 0.39}]
chr13 GH13I052009 52009849 52013635 2.07 [{'connected_gene': 'ATP7B', 'score': 591.58}, {'connected_gene': 'ALG11', 'score': 566.24}, {'connected_gene': 'NEK3', 'score': 25.6}, {'connected_gene': 'TPTE2P2', 'score': 13.16}, {'connected_gene': 'INTS6', 'score': 12.84}, {'connected_gene': 'FABP5P2', 'score': 0.25}]
chr13 GH13I051315 51315058 51316354 0.82 [{'connected_gene': 'ALG11', 'score': 35.64}, {'connected_gene': 'INTS6', 'score': 18.61}, {'connected_gene': 'SERPINE3', 'score': 12.26}, {'connected_gene': 'UTP14C', 'score': 11.4}, {'connected_gene': 'FAM124A', 'score': 11.15}, {'connected_gene': 'RNASEH2B', 'score': 10.3}, {'connected_gene': 'GC13P051260', 'score': 0.23}]
chr13 GH13I051067 51067784 51068062 0.24 [{'connected_gene': 'GUCY1B2', 'score': 6.68}, {'connected_gene': 'INTS6', 'score': 4.69}, {'connected_gene': 'RNA5SP29', 'score': 0.26}]
chr13 GH13I051241 51241765 51242005 0.64 [{'connected_gene': 'INTS6', 'score': 5.43}, {'connected_gene': 'GC13P051237', 'score': 0.77}, {'connected_gene': 'FAM124A', 'score': 0.37}, {'connected_gene': 'GC13P051260', 'score': 0.37}]
chr13 GH13I051450 51450244 51455871 2.28 [{'connected_gene': 'RPS4XP16', 'score': 560.67}, {'connected_gene': 'INTS6', 'score': 550.77}, {'connected_gene': 'INTS6-AS1', 'score': 550.77}, {'connected_gene': 'MRPS31P5', 'score': 19.8}, {'connected_gene': 'SERPINE3', 'score': 19.34}, {'connected_gene': 'DHRS12', 'score': 10.82}, {'connected_gene': 'ENSG00000231856', 'score': 10.82}, {'connected_gene': 'UTP14C', 'score': 10.46}, {'connected_gene': 'ALG11', 'score': 9.98}]
chr13 GH13I052193 52193319 52196000 2.06 [{'connected_gene': 'MRPS31P5', 'score': 570.55}, {'connected_gene': 'ALG11', 'score': 54.8}, {'connected_gene': 'RPS4XP16', 'score': 40.0}, {'connected_gene': 'UTP14C', 'score': 38.07}, {'connected_gene': 'SUGT1', 'score': 38.02}, {'connected_gene': 'CKAP2', 'score': 34.32}, {'connected_gene': 'INTS6', 'score': 27.12}, {'connected_gene': 'SERPINE3', 'score': 22.39}, {'connected_gene': 'INTS6-AS1', 'score': 21.06}, {'connected_gene': 'TPTE2P2', 'score': 15.11}, {'connected_gene': 'NEK5', 'score': 12.35}, {'connected_gene': 'CTAGE3P', 'score': 12.2}, {'connected_gene': 'ATP7B', 'score': 11.69}, {'connected_gene': 'VPS36', 'score': 9.95}, {'connected_gene': 'HNRNPA1L2', 'score': 9.93}, {'connected_gene': 'PIR51896', 'score': 0.29}, {'connected_gene': 'ENSG00000217576', 'score': 0.15}]
chr13 GH13I050882 50882801 50883400 0.2 [{'connected_gene': 'RNASEH2B-AS1', 'score': 12.13}, {'connected_gene': 'RNASEH2B', 'score': 12.13}, {'connected_gene': 'DLEU7', 'score': 10.97}, {'connected_gene': 'INTS6', 'score': 5.81}, {'connected_gene': 'GC13P050857', 'score': 0.31}]
chr13 GH13I051552 51552124 51552360 0.68 [{'connected_gene': 'MIR4703', 'score': 550.77}, {'connected_gene': 'DHRS12', 'score': 13.77}, {'connected_gene': 'WDFY2', 'score': 6.3}, {'connected_gene': 'INTS6', 'score': 5.59}, {'connected_gene': 'SNRPGP11', 'score': 0.22}, {'connected_gene': 'INTS6-AS1', 'score': 0.15}]
chr13 GH13I050514 50514657 50515055 0.38 [{'connected_gene': 'RPL34P26', 'score': 10.5}, {'connected_gene': 'DLEU7', 'score': 10.43}, {'connected_gene': 'INTS6', 'score': 5.64}, {'connected_gene': 'GC13P050502', 'score': 0.39}, {'connected_gene': 'DLEU1-AS1', 'score': 0.39}, {'connected_gene': 'DLEU1', 'score': 0.04}]
chr13 GH13I051364 51364026 51365227 0.31 [{'connected_gene': 'GC13M051362', 'score': 550.77}, {'connected_gene': 'SERPINE3', 'score': 12.54}, {'connected_gene': 'FAM124A', 'score': 10.05}, {'connected_gene': 'INTS6', 'score': 0.17}, {'connected_gene': 'INTS6-AS1', 'score': 0.17}]
chr13 GH13I051371 51371065 51371214 0.31 [{'connected_gene': 'GC13M051362', 'score': 0.44}, {'connected_gene': 'INTS6', 'score': 0.18}, {'connected_gene': 'INTS6-AS1', 'score': 0.18}]

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