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
ENST00000403045 [[70834749, 70834965], [70868468, 70868639], [70872217, 70872493], [70875054, 70875162], [70875766, 70875912], [70890375, 70890867], [70900009, 70900138], [70901809, 70901957], [70903927, 70904017], [70904889, 70905009], [70905835, 70906093], [70910722, 70910899], [70915155, 70915254], [70917917, 70918061], [70919534, 70919684], [70922852, 70922933], [70923376, 70923528], [70931452, 70931591], [70933357, 70933574], [70940197, 70940316], [70995017, 70995330]] [[70890556, 70890867], [70900009, 70900138], [70901809, 70901957], [70903927, 70904017], [70904889, 70905009], [70905835, 70906093], [70910722, 70910899], [70915155, 70915254], [70917917, 70918061], [70919534, 70919684], [70922852, 70922933], [70923376, 70923528], [70931452, 70931591], [70933357, 70933540]]
ENST00000264436 [[70883915, 70890867], [70900009, 70900138], [70901809, 70901957], [70903927, 70904017], [70904889, 70905009], [70905835, 70906093], [70910722, 70910899], [70915155, 70915254], [70917917, 70918061], [70919534, 70919684], [70922852, 70922933], [70923376, 70923528], [70931452, 70931591], [70933357, 70933574], [70940197, 70940316], [70995017, 70995309]] [[70890556, 70890867], [70900009, 70900138], [70901809, 70901957], [70903927, 70904017], [70904889, 70905009], [70905835, 70906093], [70910722, 70910899], [70915155, 70915254], [70917917, 70918061], [70919534, 70919684], [70922852, 70922933], [70923376, 70923528], [70931452, 70931591], [70933357, 70933540]]
ENST00000407644 [[70889261, 70890867], [70900009, 70900138], [70901809, 70901957], [70903927, 70904017], [70904889, 70905009], [70905835, 70906093], [70910722, 70910899], [70915155, 70915254], [70917917, 70918061], [70919534, 70919684], [70922852, 70922933], [70923376, 70923528], [70931452, 70931591], [70933357, 70933574], [70940197, 70940316], [70994735, 70994847]] [[70890556, 70890867], [70900009, 70900138], [70901809, 70901957], [70903927, 70904017], [70904889, 70905009], [70905835, 70906093], [70910722, 70910899], [70915155, 70915254], [70917917, 70918061], [70919534, 70919684], [70922852, 70922933], [70923376, 70923528], [70931452, 70931591], [70933357, 70933540]]
ENST00000355733 [[70890614, 70890867], [70900009, 70900138], [70900372, 70900458], [70901809, 70901957], [70903927, 70904017], [70904889, 70905009], [70905835, 70906093], [70910722, 70910899], [70915155, 70915254], [70917917, 70918061], [70919534, 70919684], [70922852, 70922933], [70923376, 70923528], [70931452, 70931591], [70933357, 70933574], [70940197, 70940316], [70995017, 70995309]] [[70900033, 70900138], [70900372, 70900458], [70901809, 70901957], [70903927, 70904017], [70904889, 70905009], [70905835, 70906093], [70910722, 70910899], [70915155, 70915254], [70917917, 70918061], [70919534, 70919684], [70922852, 70922933], [70923376, 70923528], [70931452, 70931591], [70933357, 70933540]]
ENST00000522886 [[70900442, 70900458], [70901809, 70901957], [70903927, 70904017], [70904889, 70904913], [70919678, 70919684], [70922852, 70922933], [70923376, 70923528], [70931452, 70931591], [70933357, 70933575]] [[70900442, 70900458], [70901809, 70901957], [70903927, 70904017], [70904889, 70904913], [70919678, 70919684], [70922852, 70922933], [70923376, 70923528], [70931452, 70931591], [70933357, 70933540]]
ENST00000456320 [[70901809, 70901957], [70917917, 70918061], [70919534, 70919684], [70922852, 70922933], [70923376, 70923528], [70931452, 70931591], [70933357, 70933540]] [[70901809, 70901957], [70917917, 70918061], [70919534, 70919684], [70922852, 70922933], [70923376, 70923528], [70931452, 70931591], [70933357, 70933540]]
ENST00000413157 [[70902224, 70904017], [70904889, 70905009], [70905835, 70906093], [70910722, 70910899], [70915155, 70915254], [70917917, 70918061], [70919534, 70919684], [70922852, 70922933], [70923376, 70923528], [70931452, 70931591], [70933357, 70933574], [70940197, 70940316], [70995017, 70995344]] [[70903840, 70904017], [70904889, 70905009], [70905835, 70906093], [70910722, 70910899], [70915155, 70915254], [70917917, 70918061], [70919534, 70919684], [70922852, 70922933], [70923376, 70923528], [70931452, 70931591], [70933357, 70933540]]
ENST00000430656 [[70903534, 70904017], [70904889, 70905009], [70905835, 70906093], [70910722, 70910899], [70915155, 70915254], [70917917, 70918061], [70919534, 70919684], [70922852, 70922933], [70923376, 70923528], [70931452, 70931591], [70933357, 70933574], [70995017, 70995329]] [[70903840, 70904017], [70904889, 70905009], [70905835, 70906093], [70910722, 70910899], [70915155, 70915254], [70917917, 70918061], [70919534, 70919684], [70922852, 70922933], [70923376, 70923528], [70931452, 70931591], [70933357, 70933574], [70995017, 70995031]]
ENST00000481675 [[70890629, 70890867], [70900009, 70900138], [70900372, 70900480]] None
ENST00000415348 [[70919559, 70919684], [70922852, 70922933], [70923376, 70923528], [70931452, 70931591], [70933357, 70933574], [70940197, 70940316], [70944813, 70944910]] [[70919559, 70919684], [70922852, 70922933], [70923376, 70923528], [70931452, 70931591], [70933357, 70933540]]
ENST00000425976 [[70923422, 70923528], [70931452, 70931591], [70933357, 70933574], [70940197, 70940316], [70994461, 70994601]] [[70923422, 70923528], [70931452, 70931591], [70933357, 70933540]]
ENST00000447731 [[70933488, 70933574], [70940197, 70940316], [70968472, 70968538], [70995017, 70995328]] [[70933488, 70933540]]
ENST00000473232 [[70933544, 70933574], [70938264, 70938382], [70940197, 70940316], [70995017, 70995332]] None
ENST00000496178 [[70940201, 70940316], [70987737, 70987833], [70995017, 70995357]] None
NM_001185054 [[70889215, 70890867], [70900009, 70900138], [70901809, 70901957], [70903927, 70904017], [70904889, 70905009], [70905835, 70906093], [70910722, 70910899], [70915155, 70915254], [70917917, 70918061], [70919534, 70919684], [70922852, 70922933], [70923376, 70923528], [70931452, 70931591], [70933357, 70933574], [70940197, 70940316], [70994735, 70994847]] [[70890556, 70890867], [70900009, 70900138], [70901809, 70901957], [70903927, 70904017], [70904889, 70905009], [70905835, 70906093], [70910722, 70910899], [70915155, 70915254], [70917917, 70918061], [70919534, 70919684], [70922852, 70922933], [70923376, 70923528], [70931452, 70931591], [70933357, 70933540]]
NM_017488 [[70889215, 70890867], [70900009, 70900138], [70900372, 70900458], [70901809, 70901957], [70903927, 70904017], [70904889, 70905009], [70905835, 70906093], [70910722, 70910899], [70915155, 70915254], [70917917, 70918061], [70919534, 70919684], [70922852, 70922933], [70923376, 70923528], [70931452, 70931591], [70933357, 70933574], [70940197, 70940316], [70995017, 70995375]] [[70900033, 70900138], [70900372, 70900458], [70901809, 70901957], [70903927, 70904017], [70904889, 70905009], [70905835, 70906093], [70910722, 70910899], [70915155, 70915254], [70917917, 70918061], [70919534, 70919684], [70922852, 70922933], [70923376, 70923528], [70931452, 70931591], [70933357, 70933540]]
NM_001617 [[70889215, 70890867], [70900009, 70900138], [70901809, 70901957], [70903927, 70904017], [70904889, 70905009], [70905835, 70906093], [70910722, 70910899], [70915155, 70915254], [70917917, 70918061], [70919534, 70919684], [70922852, 70922933], [70923376, 70923528], [70931452, 70931591], [70933357, 70933574], [70940197, 70940316], [70995017, 70995375]] [[70890556, 70890867], [70900009, 70900138], [70901809, 70901957], [70903927, 70904017], [70904889, 70905009], [70905835, 70906093], [70910722, 70910899], [70915155, 70915254], [70917917, 70918061], [70919534, 70919684], [70922852, 70922933], [70923376, 70923528], [70931452, 70931591], [70933357, 70933540]]
NM_017482 [[70902215, 70904017], [70904889, 70905009], [70905835, 70906093], [70910722, 70910899], [70915155, 70915254], [70917917, 70918061], [70919534, 70919684], [70922852, 70922933], [70923376, 70923528], [70931452, 70931591], [70933357, 70933574], [70940197, 70940316], [70995017, 70995375]] [[70903840, 70904017], [70904889, 70905009], [70905835, 70906093], [70910722, 70910899], [70915155, 70915254], [70917917, 70918061], [70919534, 70919684], [70922852, 70922933], [70923376, 70923528], [70931452, 70931591], [70933357, 70933540]]
NM_001185055 [[70902215, 70904017], [70904889, 70905009], [70905835, 70906093], [70910722, 70910899], [70915155, 70915254], [70917917, 70918061], [70919534, 70919684], [70922852, 70922933], [70923376, 70923528], [70931452, 70931591], [70933357, 70933574], [70995017, 70995375]] [[70903840, 70904017], [70904889, 70905009], [70905835, 70906093], [70910722, 70910899], [70915155, 70915254], [70917917, 70918061], [70919534, 70919684], [70922852, 70922933], [70923376, 70923528], [70931452, 70931591], [70933357, 70933574], [70995017, 70995031]]
Promoter
Chrom Start End Description
chr2 70944855 70944901 CAGE_peak_3_at_ADD2_5end
chr2 70995216 70995227 CAGE_peak_4_at_ADD2_5end
chr2 70995307 70995339 CAGE_peak_1_at_ADD2_5end
chr2 70995350 70995375 CAGE_peak_2_at_ADD2_5end
chr2 70995429 70995438 CAGE_peak_5_at_ADD2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I070727 70727965 70729246 0.67 [{'connected_gene': 'TIA1', 'score': 43.14}, {'connected_gene': 'ZNF638', 'score': 26.4}, {'connected_gene': 'ANKRD53', 'score': 21.08}, {'connected_gene': 'TEX261', 'score': 20.84}, {'connected_gene': 'PCBP1-AS1', 'score': 20.38}, {'connected_gene': 'MPHOSPH10', 'score': 19.25}, {'connected_gene': 'ADD2', 'score': 19.24}, {'connected_gene': 'CLEC4F', 'score': 10.77}, {'connected_gene': 'LOC105374796', 'score': 10.62}, {'connected_gene': 'GMCL1', 'score': 10.25}, {'connected_gene': 'PIR38094', 'score': 0.28}]
chr2 GH02I070626 70626201 70627260 0.58 [{'connected_gene': 'TGFA', 'score': 11.37}, {'connected_gene': 'ENSG00000235035', 'score': 11.22}, {'connected_gene': 'ADD2', 'score': 10.21}, {'connected_gene': 'ANXA4', 'score': 5.22}, {'connected_gene': 'GC02M070656', 'score': 0.29}]
chr2 GH02I070522 70522797 70526815 1.25 [{'connected_gene': 'TGFA', 'score': 11.43}, {'connected_gene': 'ADD2', 'score': 9.93}, {'connected_gene': 'ASPRV1', 'score': 5.19}, {'connected_gene': 'TGFA-IT1', 'score': 0.26}]
chr2 GH02I070370 70370675 70373028 0.8 [{'connected_gene': 'TGFA', 'score': 30.47}, {'connected_gene': 'ADD2', 'score': 10.32}, {'connected_gene': 'BRD7P6', 'score': 0.31}, {'connected_gene': 'LOC105374793', 'score': 0.29}]
chr2 GH02I070709 70709102 70710588 0.43 [{'connected_gene': 'TGFA', 'score': 10.85}, {'connected_gene': 'PIR38094', 'score': 0.37}, {'connected_gene': 'ADD2', 'score': 0.22}]
chr2 GH02I070627 70627629 70627717 0.54 [{'connected_gene': 'TGFA', 'score': 11.16}, {'connected_gene': 'ENSG00000235035', 'score': 11.1}, {'connected_gene': 'GC02M070656', 'score': 0.29}, {'connected_gene': 'ADD2', 'score': 0.11}]
chr2 GH02I070606 70606627 70607790 0.51 [{'connected_gene': 'TGFA', 'score': 11.29}, {'connected_gene': 'ADD2', 'score': 9.68}, {'connected_gene': 'GC02M070656', 'score': 0.23}]
chr2 GH02I070850 70850867 70852500 0.82 [{'connected_gene': 'CD207', 'score': 39.72}, {'connected_gene': 'VAX2', 'score': 11.56}, {'connected_gene': 'ATP6V1B1', 'score': 11.25}, {'connected_gene': 'ATP6V1B1-AS1', 'score': 11.17}, {'connected_gene': 'ADD2', 'score': 10.37}, {'connected_gene': 'FIGLA', 'score': 1.36}, {'connected_gene': 'LINC01143', 'score': 0.28}]
chr2 GH02I070612 70612363 70613336 0.31 [{'connected_gene': 'PAIP2B', 'score': 4.79}, {'connected_gene': 'GC02M070656', 'score': 0.25}, {'connected_gene': 'TGFA', 'score': 0.22}, {'connected_gene': 'ADD2', 'score': 0.1}]
chr2 GH02I070615 70615418 70617005 0.95 [{'connected_gene': 'PAIP2B', 'score': 4.84}, {'connected_gene': 'GC02M070656', 'score': 0.26}, {'connected_gene': 'TGFA', 'score': 0.21}, {'connected_gene': 'ADD2', 'score': 0.1}]
chr2 GH02I070789 70789729 70789798 0.83 [{'connected_gene': 'FIGLA', 'score': 550.77}, {'connected_gene': 'ADD2', 'score': 10.87}]
chr2 GH02I070790 70790533 70790592 0.68 [{'connected_gene': 'FIGLA', 'score': 550.77}, {'connected_gene': 'ADD2', 'score': 0.34}]
chr2 GH02I070828 70828401 70828600 0.38 [{'connected_gene': 'CLEC4F', 'score': 24.57}, {'connected_gene': 'ATP6V1B1-AS1', 'score': 10.66}, {'connected_gene': 'ADD2', 'score': 10.42}, {'connected_gene': 'CD207', 'score': 0.44}]
chr2 GH02I070827 70827201 70827600 0.43 [{'connected_gene': 'CLEC4F', 'score': 37.19}, {'connected_gene': 'ATP6V1B1-AS1', 'score': 10.66}, {'connected_gene': 'ADD2', 'score': 10.43}, {'connected_gene': 'CD207', 'score': 0.44}]
chr2 GH02I070766 70766527 70768318 1.89 [{'connected_gene': 'ADD2', 'score': 555.98}, {'connected_gene': 'TIA1', 'score': 14.89}, {'connected_gene': 'MPHOSPH10', 'score': 11.1}, {'connected_gene': 'FIGLA', 'score': 6.05}, {'connected_gene': 'PIR38094', 'score': 0.18}]
chr2 GH02I070619 70619649 70620594 0.83 [{'connected_gene': 'ADD2', 'score': 11.56}, {'connected_gene': 'TGFA', 'score': 11.38}, {'connected_gene': 'FIGLA', 'score': 1.91}, {'connected_gene': 'GC02M070656', 'score': 0.28}]
chr2 GH02I070601 70601211 70604355 0.31 [{'connected_gene': 'ADD2', 'score': 13.89}, {'connected_gene': 'TGFA', 'score': 11.3}, {'connected_gene': 'ZNF638', 'score': 4.84}, {'connected_gene': 'GC02M070656', 'score': 0.22}]
chr2 GH02I070540 70540610 70542821 1 [{'connected_gene': 'ADD2', 'score': 9.41}, {'connected_gene': 'TGFA', 'score': 0.39}, {'connected_gene': 'TGFA-IT1', 'score': 0.21}]
chr2 GH02I070569 70569118 70571367 0.54 [{'connected_gene': 'ADD2', 'score': 10.04}, {'connected_gene': 'TGFA', 'score': 7.61}, {'connected_gene': 'GC02M070656', 'score': 0.17}]
chr2 GH02I070647 70647989 70648138 0.72 [{'connected_gene': 'ADD2', 'score': 10.84}, {'connected_gene': 'GC02M070656', 'score': 0.39}, {'connected_gene': 'TGFA', 'score': 0.16}]
chr2 GH02I070717 70717737 70717796 1.12 [{'connected_gene': 'ADD2', 'score': 560.92}, {'connected_gene': 'PCBP1-AS1', 'score': 12.53}, {'connected_gene': 'GMCL1', 'score': 11.73}, {'connected_gene': 'NAGK', 'score': 10.54}, {'connected_gene': 'PIR38094', 'score': 0.31}]
chr2 GH02I070732 70732468 70735021 0.43 [{'connected_gene': 'ADD2', 'score': 33.76}, {'connected_gene': 'FIGLA', 'score': 6.48}, {'connected_gene': 'PIR38094', 'score': 0.26}]
chr2 GH02I070794 70794995 70795319 0.24 [{'connected_gene': 'ADD2', 'score': 10.92}, {'connected_gene': 'VAX2', 'score': 10.31}, {'connected_gene': 'ATP6V1B1-AS1', 'score': 10.27}, {'connected_gene': 'FIGLA', 'score': 2.5}, {'connected_gene': 'HMGN2P21', 'score': 0.44}]
chr2 GH02I070993 70993330 70996107 1.99 [{'connected_gene': 'TEX261', 'score': 573.87}, {'connected_gene': 'ENSG00000258881', 'score': 550.77}, {'connected_gene': 'LOC105374796', 'score': 550.77}, {'connected_gene': 'ANKRD53', 'score': 5.15}, {'connected_gene': 'CLEC4F', 'score': 5.15}, {'connected_gene': 'ADD2', 'score': 4.3}]
chr2 GH02I070984 70984374 70985489 0.64 [{'connected_gene': 'LOC105374795', 'score': 550.77}, {'connected_gene': 'PIR48803', 'score': 550.77}, {'connected_gene': 'PIR41407', 'score': 550.77}, {'connected_gene': 'TEX261', 'score': 23.07}, {'connected_gene': 'ATP6V1B1-AS1', 'score': 10.75}, {'connected_gene': 'VAX2', 'score': 10.13}, {'connected_gene': 'ADD2', 'score': 4.42}, {'connected_gene': 'CLEC4F', 'score': 4.34}, {'connected_gene': 'ANKRD53', 'score': 0.44}, {'connected_gene': 'ENSG00000258881', 'score': 0.39}]
chr2 GH02I070921 70921640 70922661 0.73 [{'connected_gene': 'ATP6V1B1-AS1', 'score': 12.27}, {'connected_gene': 'VAX2', 'score': 12.09}, {'connected_gene': 'ADD2', 'score': 10.53}, {'connected_gene': 'ATP6V1B1', 'score': 7.53}]
chr2 GH02I070919 70919951 70920100 0.89 [{'connected_gene': 'ATP6V1B1-AS1', 'score': 12.27}, {'connected_gene': 'ADD2', 'score': 10.53}, {'connected_gene': 'CD207', 'score': 10.49}, {'connected_gene': 'ATP6V1B1', 'score': 0.37}, {'connected_gene': 'VAX2', 'score': 0.37}]
chr2 GH02I070802 70802392 70802665 0.33 [{'connected_gene': 'HMGN2P21', 'score': 550.77}, {'connected_gene': 'CLEC4F', 'score': 14.2}, {'connected_gene': 'VAX2', 'score': 11.22}, {'connected_gene': 'ADD2', 'score': 10.73}, {'connected_gene': 'FIGLA', 'score': 0.39}]
chr2 GH02I070656 70656829 70656978 0.2 [{'connected_gene': 'GC02M070656', 'score': 550.77}, {'connected_gene': 'TGFA', 'score': 0.15}, {'connected_gene': 'ADD2', 'score': 0.14}]
chr2 GH02I070617 70617649 70617878 0.83 [{'connected_gene': 'GC02M070656', 'score': 0.26}, {'connected_gene': 'TGFA', 'score': 0.21}, {'connected_gene': 'ADD2', 'score': 0.1}]
chr2 GH02I070686 70686449 70687953 1.17 [{'connected_gene': 'ENSG00000235035', 'score': 550.77}, {'connected_gene': 'MPHOSPH10', 'score': 5.23}, {'connected_gene': 'ADD2', 'score': 4.4}, {'connected_gene': 'PIR38094', 'score': 0.77}]

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