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
ENST00000469710 [[121774212, 121774350], [121822358, 121822694], [121825044, 121825347], [121828111, 121828255], [121836894, 121836940], [121838284, 121838921]] [[121822540, 121822694], [121825044, 121825347], [121828111, 121828255], [121836894, 121836940], [121838284, 121838381]]
ENST00000493101 [[121774212, 121774350], [121810447, 121810497], [121825044, 121825347], [121828111, 121828255], [121836894, 121836940], [121838284, 121839175]] [[121774336, 121774350], [121810447, 121810497], [121825044, 121825347], [121828111, 121828255], [121836894, 121836940], [121838284, 121838381]]
ENST00000264468 [[121774220, 121774350], [121810447, 121810497], [121828111, 121828255], [121836894, 121836940], [121838284, 121839982]] [[121774336, 121774350], [121810447, 121810497], [121828111, 121828255], [121836894, 121836940], [121838284, 121838381]]
ENST00000330540 [[121774220, 121774350], [121810447, 121810497], [121822358, 121822694], [121825044, 121825347], [121828111, 121828255], [121836894, 121836940], [121838284, 121839983]] [[121774336, 121774350], [121810447, 121810497], [121822358, 121822694], [121825044, 121825347], [121828111, 121828255], [121836894, 121836940], [121838284, 121838381]]
ENST00000478390 [[121774223, 121774350], [121810447, 121811009]] None
ENST00000483949 [[121796690, 121796892], [121810447, 121810582], [121822358, 121822504]] None
ENST00000482356 [[121796703, 121796763], [121810447, 121810497], [121822358, 121822694], [121825044, 121825165]] [[121810451, 121810497], [121822358, 121822694], [121825044, 121825165]]
ENST00000393627 [[121796749, 121796892], [121810447, 121810497], [121822358, 121822694], [121825044, 121825347], [121828111, 121828255], [121836894, 121836940], [121838284, 121838667]] [[121810451, 121810497], [121822358, 121822694], [121825044, 121825347], [121828111, 121828255], [121836894, 121836940], [121838284, 121838381]]
ENST00000478741 [[121810447, 121810497], [121822358, 121822694], [121825044, 121825347], [121836894, 121836940], [121838284, 121838440]] [[121810447, 121810497], [121822358, 121822694], [121825044, 121825347], [121836894, 121836940], [121838284, 121838381]]
NM_001206925 [[121774208, 121774350], [121822358, 121822694], [121825044, 121825347], [121828111, 121828255], [121836894, 121836940], [121838284, 121839990]] [[121822540, 121822694], [121825044, 121825347], [121828111, 121828255], [121836894, 121836940], [121838284, 121838381]]
NM_001206924 [[121774208, 121774350], [121810447, 121810497], [121825044, 121825347], [121828111, 121828255], [121836894, 121836940], [121838284, 121839990]] [[121774336, 121774350], [121810447, 121810497], [121825044, 121825347], [121828111, 121828255], [121836894, 121836940], [121838284, 121838381]]
NM_175862 [[121774208, 121774350], [121810447, 121810497], [121822358, 121822694], [121825044, 121825347], [121828111, 121828255], [121836894, 121836940], [121838284, 121839990]] [[121774336, 121774350], [121810447, 121810497], [121822358, 121822694], [121825044, 121825347], [121828111, 121828255], [121836894, 121836940], [121838284, 121838381]]
NM_176892 [[121796695, 121796892], [121810447, 121810497], [121822358, 121822694], [121825044, 121825347], [121836894, 121836940], [121838284, 121839990]] [[121810451, 121810497], [121822358, 121822694], [121825044, 121825347], [121836894, 121836940], [121838284, 121838381]]
NM_006889 [[121796695, 121796892], [121810447, 121810497], [121822358, 121822694], [121825044, 121825347], [121828111, 121828255], [121836894, 121836940], [121838284, 121839990]] [[121810451, 121810497], [121822358, 121822694], [121825044, 121825347], [121828111, 121828255], [121836894, 121836940], [121838284, 121838381]]
Promoter
Chrom Start End Description
chr3 121774202 121774222 CAGE_peak_1_at_CD86_5end
chr3 121774295 121774306 CAGE_peak_3_at_CD86_5end
chr3 121796596 121796601 CAGE_peak_8_at_CD86_5end
chr3 121796623 121796637 CAGE_peak_4_at_CD86_5end
chr3 121796640 121796643 CAGE_peak_7_at_CD86_5end
chr3 121796659 121796672 CAGE_peak_5_at_CD86_5end
chr3 121796686 121796695 CAGE_peak_6_at_CD86_5end
chr3 121796697 121796747 CAGE_peak_2_at_CD86_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I122002 122002601 122005524 1.31 [{'connected_gene': 'IQCB1', 'score': 20.59}, {'connected_gene': 'SLC15A2', 'score': 14.73}, {'connected_gene': 'CD86', 'score': 13.94}, {'connected_gene': 'ENSG00000202388', 'score': 13.28}, {'connected_gene': 'ILDR1', 'score': 13.16}, {'connected_gene': 'CSTA', 'score': 1.54}, {'connected_gene': 'EAF2', 'score': 1.53}, {'connected_gene': 'HCLS1', 'score': 1.53}, {'connected_gene': 'LOC101927010', 'score': 0.37}, {'connected_gene': 'GC03M121324', 'score': 0.28}]
chr3 GH03I121994 121994028 121996283 1.21 [{'connected_gene': 'IQCB1', 'score': 21.22}, {'connected_gene': 'SLC15A2', 'score': 17.81}, {'connected_gene': 'EAF2', 'score': 12.82}, {'connected_gene': 'CD86', 'score': 10.88}, {'connected_gene': 'HCLS1', 'score': 1.43}, {'connected_gene': 'CSTA', 'score': 1.32}, {'connected_gene': 'LOC101927010', 'score': 0.44}, {'connected_gene': 'ENSG00000202388', 'score': 0.29}, {'connected_gene': 'GC03M121324', 'score': 0.26}, {'connected_gene': 'ILDR1', 'score': 0.2}]
chr3 GH03I121957 121957777 121958200 1.04 [{'connected_gene': 'CD86', 'score': 13.08}, {'connected_gene': 'IQCB1', 'score': 11.47}, {'connected_gene': 'HCLS1', 'score': 2.53}, {'connected_gene': 'EAF2', 'score': 1.57}, {'connected_gene': 'CSTA', 'score': 1.21}, {'connected_gene': 'GC03P121966', 'score': 0.44}, {'connected_gene': 'SLC15A2', 'score': 0.21}, {'connected_gene': 'GC03M121324', 'score': 0.18}]
chr3 GH03I122053 122053081 122053250 0.61 [{'connected_gene': 'CD86', 'score': 8.47}, {'connected_gene': 'HCLS1', 'score': 1.79}, {'connected_gene': 'EAF2', 'score': 1.6}, {'connected_gene': 'CSTA', 'score': 1.3}, {'connected_gene': 'ILDR1', 'score': 0.44}, {'connected_gene': 'GC03M121324', 'score': 0.39}]
chr3 GH03I122054 122054794 122056339 1.9 [{'connected_gene': 'CD86', 'score': 550.77}, {'connected_gene': 'ENSG00000202388', 'score': 12.24}, {'connected_gene': 'ILDR1', 'score': 0.77}]
chr3 GH03I122101 122101492 122102043 1.44 [{'connected_gene': 'CD86', 'score': 4.66}, {'connected_gene': 'DTX3L', 'score': 2.2}, {'connected_gene': 'PARP9', 'score': 1.98}, {'connected_gene': 'EAF2', 'score': 1.83}, {'connected_gene': 'HCLS1', 'score': 1.6}, {'connected_gene': 'ILDR1', 'score': 0.26}, {'connected_gene': 'CASR', 'score': 0.18}]
chr3 GH03I122074 122073100 122073207 0.56 [{'connected_gene': 'CD86', 'score': 8.6}, {'connected_gene': 'DTX3L', 'score': 7.71}, {'connected_gene': 'PARP9', 'score': 7.39}, {'connected_gene': 'HCLS1', 'score': 1.73}, {'connected_gene': 'EAF2', 'score': 1.67}, {'connected_gene': 'ILDR1', 'score': 0.39}, {'connected_gene': 'CASR', 'score': 0.14}]
chr3 GH03I122073 122073889 122080970 2.01 [{'connected_gene': 'CD86', 'score': 562.73}, {'connected_gene': 'ENSG00000202388', 'score': 12.36}, {'connected_gene': 'DTX3L', 'score': 10.76}, {'connected_gene': 'PARP9', 'score': 10.42}, {'connected_gene': 'CCDC58', 'score': 9.91}, {'connected_gene': 'FAM162A', 'score': 9.91}, {'connected_gene': 'IQCB1', 'score': 5.91}, {'connected_gene': 'EAF2', 'score': 1.77}, {'connected_gene': 'CSTA', 'score': 1.68}, {'connected_gene': 'HCLS1', 'score': 1.65}, {'connected_gene': 'ILDR1', 'score': 0.37}, {'connected_gene': 'CASR', 'score': 0.14}]
chr3 GH03I122012 122012861 122013130 0.49 [{'connected_gene': 'CD86', 'score': 8.57}, {'connected_gene': 'ENSG00000202388', 'score': 0.39}, {'connected_gene': 'LOC101927010', 'score': 0.34}, {'connected_gene': 'GC03M121324', 'score': 0.31}, {'connected_gene': 'ILDR1', 'score': 0.25}]
chr3 GH03I122260 122260976 122261175 0.33 [{'connected_gene': 'CD86', 'score': 3.6}, {'connected_gene': 'HNRNPA1P23', 'score': 0.22}, {'connected_gene': 'CASR', 'score': 0.18}]
chr3 GH03I122232 122232394 122234400 1.23 [{'connected_gene': 'CASR', 'score': 11.19}, {'connected_gene': 'IQCB1', 'score': 4.58}, {'connected_gene': 'CD86', 'score': 4.01}, {'connected_gene': 'PARP14', 'score': 2.92}, {'connected_gene': 'PARP9', 'score': 2.4}, {'connected_gene': 'DTX3L', 'score': 1.97}, {'connected_gene': 'KPNA1', 'score': 1.85}, {'connected_gene': 'GOLGB1', 'score': 1.81}, {'connected_gene': 'CSTA', 'score': 1.65}, {'connected_gene': 'HNRNPA1P23', 'score': 0.18}]
chr3 GH03I122065 122065768 122068616 1.32 [{'connected_gene': 'CASR', 'score': 10.49}, {'connected_gene': 'CD86', 'score': 3.27}, {'connected_gene': 'EAF2', 'score': 2.45}, {'connected_gene': 'HCLS1', 'score': 1.85}, {'connected_gene': 'PARP9', 'score': 1.67}, {'connected_gene': 'DTX3L', 'score': 1.5}, {'connected_gene': 'ILDR1', 'score': 0.44}]
chr3 GH03I122245 122245528 122248308 1.08 [{'connected_gene': 'CASR', 'score': 10.77}, {'connected_gene': 'PARP14', 'score': 6.64}, {'connected_gene': 'PARP9', 'score': 5.19}, {'connected_gene': 'IQCB1', 'score': 4.61}, {'connected_gene': 'HSPBAP1', 'score': 4.52}, {'connected_gene': 'CD86', 'score': 4.16}, {'connected_gene': 'DTX3L', 'score': 3.63}, {'connected_gene': 'KPNA1', 'score': 3.14}, {'connected_gene': 'CSTA', 'score': 2.94}, {'connected_gene': 'GOLGB1', 'score': 1.44}, {'connected_gene': 'EAF2', 'score': 1.11}, {'connected_gene': 'HNRNPA1P23', 'score': 0.19}]
chr3 GH03I122105 122105714 122105863 0.51 [{'connected_gene': 'CASR', 'score': 10.73}, {'connected_gene': 'POLQ', 'score': 10.33}, {'connected_gene': 'ILDR1', 'score': 0.25}, {'connected_gene': 'CD86', 'score': 0.23}]
chr3 GH03I122099 122099167 122101418 1.1 [{'connected_gene': 'PARP9', 'score': 9.36}, {'connected_gene': 'DTX3L', 'score': 9.25}, {'connected_gene': 'CD86', 'score': 7.24}, {'connected_gene': 'HCLS1', 'score': 2.8}, {'connected_gene': 'CSTA', 'score': 2.12}, {'connected_gene': 'EAF2', 'score': 1.97}, {'connected_gene': 'ILDR1', 'score': 0.28}, {'connected_gene': 'CASR', 'score': 0.18}]
chr3 GH03I121997 121997402 121999599 1.28 [{'connected_gene': 'SLC15A2', 'score': 13.72}, {'connected_gene': 'CD86', 'score': 13.51}, {'connected_gene': 'EAF2', 'score': 11.77}, {'connected_gene': 'ENSG00000202388', 'score': 11.74}, {'connected_gene': 'ILDR1', 'score': 11.64}, {'connected_gene': 'IQCB1', 'score': 10.46}, {'connected_gene': 'CSTA', 'score': 1.56}, {'connected_gene': 'HCLS1', 'score': 1.45}, {'connected_gene': 'LOC101927010', 'score': 0.39}, {'connected_gene': 'GC03M121324', 'score': 0.26}]
chr3 GH03I121658 121658100 121662040 2.32 [{'connected_gene': 'HCLS1', 'score': 563.94}, {'connected_gene': 'IQCB1', 'score': 28.61}, {'connected_gene': 'SLC15A2', 'score': 4.12}, {'connected_gene': 'GOLGB1', 'score': 2.14}, {'connected_gene': 'CD86', 'score': 1.41}, {'connected_gene': 'RNU4-62P', 'score': 0.77}, {'connected_gene': 'GC03M121324', 'score': 0.05}]
chr3 GH03I122056 122056401 122060690 1.27 [{'connected_gene': 'ILDR1', 'score': 550.77}, {'connected_gene': 'ENSG00000202388', 'score': 12.34}, {'connected_gene': 'CD86', 'score': 11.87}, {'connected_gene': 'IQCB1', 'score': 6.71}, {'connected_gene': 'HCLS1', 'score': 2.12}, {'connected_gene': 'EAF2', 'score': 1.7}]
chr3 GH03I122093 122093593 122095577 0.69 [{'connected_gene': 'ILDR1', 'score': 12.08}, {'connected_gene': 'ENSG00000202388', 'score': 11.99}, {'connected_gene': 'CD86', 'score': 0.28}, {'connected_gene': 'CASR', 'score': 0.17}]
chr3 GH03I122091 122091234 122093092 1.05 [{'connected_gene': 'ILDR1', 'score': 12.08}, {'connected_gene': 'ENSG00000202388', 'score': 11.99}, {'connected_gene': 'CD86', 'score': 6.76}, {'connected_gene': 'CASR', 'score': 0.16}]
chr3 GH03I122088 122088601 122089000 0.4 [{'connected_gene': 'ILDR1', 'score': 0.31}, {'connected_gene': 'CD86', 'score': 0.29}, {'connected_gene': 'CASR', 'score': 0.16}]
chr3 GH03I122082 122081922 122083176 0.59 [{'connected_gene': 'ILDR1', 'score': 11.46}, {'connected_gene': 'ENSG00000202388', 'score': 11.34}, {'connected_gene': 'CSTA', 'score': 10.63}, {'connected_gene': 'CCDC58', 'score': 9.82}, {'connected_gene': 'FAM162A', 'score': 9.82}, {'connected_gene': 'IQCB1', 'score': 6.35}, {'connected_gene': 'CD86', 'score': 0.31}, {'connected_gene': 'CASR', 'score': 0.15}]
chr3 GH03I122081 122081622 122081833 0.98 [{'connected_gene': 'ILDR1', 'score': 11.46}, {'connected_gene': 'ENSG00000202388', 'score': 11.34}, {'connected_gene': 'CSTA', 'score': 10.63}, {'connected_gene': 'CCDC58', 'score': 9.82}, {'connected_gene': 'FAM162A', 'score': 9.82}, {'connected_gene': 'CD86', 'score': 8.63}, {'connected_gene': 'EAF2', 'score': 2.54}, {'connected_gene': 'CASR', 'score': 0.15}]
chr3 GH03I122030 122030173 122031013 0.86 [{'connected_gene': 'GOLGB1', 'score': 11.36}, {'connected_gene': 'CD86', 'score': 5.87}, {'connected_gene': 'EAF2', 'score': 1.51}, {'connected_gene': 'HCLS1', 'score': 1.34}, {'connected_gene': 'GC03M121324', 'score': 0.44}, {'connected_gene': 'ENSG00000202388', 'score': 0.44}, {'connected_gene': 'ILDR1', 'score': 0.31}]
chr3 GH03I122575 122575229 122579662 2.26 [{'connected_gene': 'PARP15', 'score': 570.05}, {'connected_gene': 'GOLGB1', 'score': 11.32}, {'connected_gene': 'SEC22A', 'score': 10.35}, {'connected_gene': 'LOC102723582', 'score': 4.01}, {'connected_gene': 'PARP14', 'score': 3.44}, {'connected_gene': 'DIRC2', 'score': 2.58}, {'connected_gene': 'PARP9', 'score': 2.27}, {'connected_gene': 'DTX3L', 'score': 1.91}, {'connected_gene': 'HSPBAP1', 'score': 1.52}, {'connected_gene': 'CD86', 'score': 1.11}]
chr3 GH03I122111 122111043 122112274 0.46 [{'connected_gene': 'CSTA', 'score': 11.15}, {'connected_gene': 'CASR', 'score': 11.01}, {'connected_gene': 'POLQ', 'score': 10.32}, {'connected_gene': 'RPL7AP11', 'score': 3.82}, {'connected_gene': 'ILDR1', 'score': 0.23}, {'connected_gene': 'CD86', 'score': 0.22}]
chr3 GH03I122313 122313907 122315436 0.88 [{'connected_gene': 'CSTA', 'score': 13.43}, {'connected_gene': 'WDR5B', 'score': 12.2}, {'connected_gene': 'CCDC58', 'score': 10.74}, {'connected_gene': 'FAM162A', 'score': 10.74}, {'connected_gene': 'PARP14', 'score': 9.79}, {'connected_gene': 'PARP9', 'score': 4.02}, {'connected_gene': 'DTX3L', 'score': 4.0}, {'connected_gene': 'DIRC2', 'score': 2.41}, {'connected_gene': 'CD86', 'score': 1.85}, {'connected_gene': 'KPNA1', 'score': 1.46}, {'connected_gene': 'HSPBAP1', 'score': 1.36}, {'connected_gene': 'HNRNPA1P23', 'score': 0.77}, {'connected_gene': 'CASR', 'score': 0.12}]
chr3 GH03I122294 122294401 122295800 0.96 [{'connected_gene': 'CSTA', 'score': 13.0}, {'connected_gene': 'WDR5B', 'score': 9.62}, {'connected_gene': 'LOC102723582', 'score': 8.48}, {'connected_gene': 'PARP14', 'score': 4.34}, {'connected_gene': 'PARP9', 'score': 2.72}, {'connected_gene': 'CD86', 'score': 2.61}, {'connected_gene': 'DIRC2', 'score': 2.57}, {'connected_gene': 'DTX3L', 'score': 2.46}, {'connected_gene': 'HSPBAP1', 'score': 1.96}, {'connected_gene': 'HNRNPA1P23', 'score': 0.34}, {'connected_gene': 'CASR', 'score': 0.14}]
chr3 GH03I122268 122268783 122268872 0.68 [{'connected_gene': 'CSTA', 'score': 10.72}, {'connected_gene': 'CCDC58', 'score': 10.29}, {'connected_gene': 'FAM162A', 'score': 10.29}, {'connected_gene': 'WDR5B', 'score': 4.7}, {'connected_gene': 'CD86', 'score': 4.23}, {'connected_gene': 'HNRNPA1P23', 'score': 0.25}, {'connected_gene': 'CASR', 'score': 0.17}]
chr3 GH03I122322 122322085 122323183 1.09 [{'connected_gene': 'LOC102723582', 'score': 5.1}, {'connected_gene': 'PARP14', 'score': 4.6}, {'connected_gene': 'CSTA', 'score': 2.49}, {'connected_gene': 'PARP9', 'score': 1.94}, {'connected_gene': 'DTX3L', 'score': 1.59}, {'connected_gene': 'CD86', 'score': 1.5}, {'connected_gene': 'HNRNPA1P23', 'score': 0.44}]
chr3 GH03I122063 122063514 122064859 1.04 [{'connected_gene': 'ENSG00000202388', 'score': 11.81}, {'connected_gene': 'CD86', 'score': 10.77}, {'connected_gene': 'IQCB1', 'score': 6.46}, {'connected_gene': 'DTX3L', 'score': 4.13}, {'connected_gene': 'PARP9', 'score': 4.06}, {'connected_gene': 'HCLS1', 'score': 2.28}, {'connected_gene': 'EAF2', 'score': 2.15}, {'connected_gene': 'CSTA', 'score': 1.7}, {'connected_gene': 'ILDR1', 'score': 0.77}, {'connected_gene': 'CASR', 'score': 0.13}]

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