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
ENST00000225983 [[42154113, 42155783], [42155867, 42156033], [42156162, 42156247], [42156511, 42156645], [42157474, 42157593], [42157768, 42157866], [42158130, 42158250], [42159952, 42160040], [42160132, 42160188], [42160912, 42161020], [42161172, 42161222], [42161922, 42162043], [42162389, 42162523], [42163939, 42164105], [42164779, 42165064], [42165754, 42165966], [42168637, 42168860], [42169067, 42169199], [42169539, 42169652], [42169748, 42169895], [42170043, 42170174], [42170459, 42170574], [42170681, 42170853], [42170942, 42171202], [42188096, 42188171], [42194861, 42195072], [42200871, 42201006]] [[42155743, 42155783], [42155867, 42156033], [42156162, 42156247], [42156511, 42156645], [42157474, 42157593], [42157768, 42157866], [42158130, 42158250], [42159952, 42160040], [42160132, 42160188], [42160912, 42161020], [42161172, 42161222], [42161922, 42162043], [42162389, 42162523], [42163939, 42164105], [42164779, 42165064], [42165754, 42165966], [42168637, 42168860], [42169067, 42169199], [42169539, 42169652], [42169748, 42169895], [42170043, 42170174], [42170459, 42170574], [42170681, 42170853], [42170942, 42171202], [42188096, 42188171], [42194861, 42194883]]
ENST00000393622 [[42154120, 42155783], [42155867, 42156033], [42156162, 42156247], [42156511, 42156645], [42157474, 42157593], [42157768, 42157866], [42158130, 42158250], [42159952, 42160040], [42160132, 42160188], [42160912, 42161020], [42161172, 42161222], [42161922, 42162043], [42162389, 42162523], [42163939, 42164105], [42164779, 42165064], [42165754, 42165966], [42168637, 42168860], [42169067, 42169199], [42169539, 42169652], [42169748, 42169895], [42170043, 42170174], [42170459, 42170574], [42170681, 42170853], [42170942, 42171202], [42188096, 42188168], [42194861, 42195072], [42200871, 42201014]] [[42155743, 42155783], [42155867, 42156033], [42156162, 42156247], [42156511, 42156645], [42157474, 42157593], [42157768, 42157866], [42158130, 42158250], [42159952, 42160040], [42160132, 42160188], [42160912, 42161020], [42161172, 42161222], [42161922, 42162043], [42162389, 42162523], [42163939, 42164105], [42164779, 42165064], [42165754, 42165966], [42168637, 42168860], [42169067, 42169199], [42169539, 42169652], [42169748, 42169895], [42170043, 42170174], [42170459, 42170574], [42170681, 42170853], [42170942, 42171202], [42188096, 42188168], [42194861, 42194883]]
ENST00000336057 [[42154121, 42155783], [42155867, 42156033], [42156162, 42156247], [42156511, 42156645], [42157474, 42157593], [42157768, 42157866], [42158130, 42158250], [42159952, 42160040], [42160132, 42160188], [42160912, 42161020], [42161172, 42161222], [42163939, 42164105], [42164779, 42165064], [42165754, 42165966], [42168637, 42168860], [42169067, 42169199], [42169539, 42169652], [42169748, 42169895], [42170043, 42170174], [42170459, 42170574], [42170681, 42170853], [42170942, 42171202], [42188096, 42188168], [42194861, 42195072], [42200871, 42200986]] [[42155743, 42155783], [42155867, 42156033], [42156162, 42156247], [42156511, 42156645], [42157474, 42157593], [42157768, 42157866], [42158130, 42158250], [42159952, 42160040], [42160132, 42160188], [42160912, 42161020], [42161172, 42161222], [42163939, 42164105], [42164779, 42165064], [42165754, 42165966], [42168637, 42168860], [42169067, 42169199], [42169539, 42169652], [42169748, 42169895], [42170043, 42170174], [42170459, 42170574], [42170681, 42170853], [42170942, 42171202], [42188096, 42188168], [42194861, 42194883]]
ENST00000586802 [[42155661, 42155783], [42155867, 42156033], [42156162, 42156247], [42156511, 42156645], [42157474, 42157593], [42157768, 42157866], [42158130, 42158250], [42159952, 42160040], [42160132, 42160188], [42160912, 42161020], [42161172, 42161222], [42161922, 42162043], [42162389, 42162523], [42163939, 42164105], [42164779, 42165064], [42165754, 42165966], [42168637, 42168860], [42169067, 42169199], [42169539, 42169652], [42169748, 42169895], [42170043, 42170174], [42170459, 42170574], [42170681, 42170853], [42170942, 42171202], [42188096, 42188168], [42194861, 42195072], [42200621, 42200643]] [[42155743, 42155783], [42155867, 42156033], [42156162, 42156247], [42156511, 42156645], [42157474, 42157593], [42157768, 42157866], [42158130, 42158250], [42159952, 42160040], [42160132, 42160188], [42160912, 42161020], [42161172, 42161222], [42161922, 42162043], [42162389, 42162523], [42163939, 42164105], [42164779, 42165064], [42165754, 42165966], [42168637, 42168860], [42169067, 42169199], [42169539, 42169652], [42169748, 42169895], [42170043, 42170174], [42170459, 42170574], [42170681, 42170853], [42170942, 42171202], [42188096, 42188168], [42194861, 42194883]]
ENST00000586339 [[42155975, 42156247], [42156511, 42156704]] None
ENST00000592385 [[42158938, 42160040], [42160132, 42160188], [42160912, 42161020], [42161172, 42161222], [42161922, 42162043], [42162389, 42162523], [42163939, 42164105], [42164779, 42165064], [42165754, 42165966], [42168637, 42168860], [42169067, 42169199], [42169539, 42169551]] None
ENST00000593013 [[42158964, 42160040], [42160132, 42160188], [42160912, 42161020], [42161172, 42161222], [42161922, 42162043], [42162389, 42162723]] None
ENST00000588419 [[42159951, 42160040], [42160132, 42160188], [42160912, 42161020], [42161172, 42161222], [42161922, 42162043], [42162389, 42162523], [42163939, 42164123]] None
ENST00000588261 [[42165815, 42165966], [42168637, 42168860], [42169067, 42169199], [42169539, 42169652], [42170043, 42170174], [42170459, 42170555]] [[42165815, 42165966], [42168637, 42168860], [42169067, 42169199], [42169539, 42169652], [42170043, 42170174], [42170459, 42170555]]
ENST00000587776 [[42168660, 42168860], [42169067, 42169199], [42169748, 42169895], [42170043, 42170174], [42170459, 42170574], [42170681, 42170873]] None
ENST00000588703 [[42171031, 42171202], [42188096, 42188171], [42200871, 42201070]] [[42171031, 42171202], [42188096, 42188163]]
ENST00000591714 [[42171148, 42171202], [42188096, 42188709]] [[42171148, 42171202], [42188096, 42188247]]
ENST00000587135 [[42171148, 42171202], [42188096, 42188171], [42200621, 42200996]] [[42171148, 42171202], [42188096, 42188163]]
NM_001015053 [[42154120, 42155783], [42155867, 42156033], [42156162, 42156247], [42156511, 42156645], [42157474, 42157593], [42157768, 42157866], [42158130, 42158250], [42159952, 42160040], [42160132, 42160188], [42160912, 42161020], [42161172, 42161222], [42161922, 42162043], [42162389, 42162523], [42163939, 42164105], [42164779, 42165064], [42165754, 42165966], [42168637, 42168860], [42169067, 42169199], [42169539, 42169652], [42169748, 42169895], [42170043, 42170174], [42170459, 42170574], [42170681, 42170853], [42170942, 42171202], [42188096, 42188171], [42194861, 42195072], [42200871, 42201014]] [[42155743, 42155783], [42155867, 42156033], [42156162, 42156247], [42156511, 42156645], [42157474, 42157593], [42157768, 42157866], [42158130, 42158250], [42159952, 42160040], [42160132, 42160188], [42160912, 42161020], [42161172, 42161222], [42161922, 42162043], [42162389, 42162523], [42163939, 42164105], [42164779, 42165064], [42165754, 42165966], [42168637, 42168860], [42169067, 42169199], [42169539, 42169652], [42169748, 42169895], [42170043, 42170174], [42170459, 42170574], [42170681, 42170853], [42170942, 42171202], [42188096, 42188171], [42194861, 42194883]]
NM_005474 [[42154120, 42155783], [42155867, 42156033], [42156162, 42156247], [42156511, 42156645], [42157474, 42157593], [42157768, 42157866], [42158130, 42158250], [42159952, 42160040], [42160132, 42160188], [42160912, 42161020], [42161172, 42161222], [42161922, 42162043], [42162389, 42162523], [42163939, 42164105], [42164779, 42165064], [42165754, 42165966], [42168637, 42168860], [42169067, 42169199], [42169539, 42169652], [42169748, 42169895], [42170043, 42170174], [42170459, 42170574], [42170681, 42170853], [42170942, 42171202], [42188096, 42188168], [42194861, 42195072], [42200871, 42201014]] [[42155743, 42155783], [42155867, 42156033], [42156162, 42156247], [42156511, 42156645], [42157474, 42157593], [42157768, 42157866], [42158130, 42158250], [42159952, 42160040], [42160132, 42160188], [42160912, 42161020], [42161172, 42161222], [42161922, 42162043], [42162389, 42162523], [42163939, 42164105], [42164779, 42165064], [42165754, 42165966], [42168637, 42168860], [42169067, 42169199], [42169539, 42169652], [42169748, 42169895], [42170043, 42170174], [42170459, 42170574], [42170681, 42170853], [42170942, 42171202], [42188096, 42188168], [42194861, 42194883]]
Promoter
Chrom Start End Description
chr17 42154416 42154417 CAGE_peak_12_at_HDAC5_5end
chr17 42169154 42169171 CAGE_peak_3_at_HDAC5_5end
chr17 42200958 42200989 CAGE_peak_2_at_HDAC5_5end
chr17 42200997 42201033 CAGE_peak_1_at_HDAC5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I044094 44094864 44098942 1.73 [{'connected_gene': 'ASB16', 'score': 23.87}, {'connected_gene': 'G6PC3', 'score': 22.82}, {'connected_gene': 'TMEM101', 'score': 21.63}, {'connected_gene': 'ASB16-AS1', 'score': 12.98}, {'connected_gene': 'LSM12', 'score': 12.44}, {'connected_gene': 'RNU6-131P', 'score': 12.16}, {'connected_gene': 'C17orf53', 'score': 12.13}, {'connected_gene': 'HDAC5', 'score': 11.93}, {'connected_gene': 'ENSG00000221044', 'score': 11.02}, {'connected_gene': 'PYY', 'score': 10.67}, {'connected_gene': 'NAGS', 'score': 10.64}, {'connected_gene': 'PIR35706', 'score': 0.77}, {'connected_gene': 'GC17P044094', 'score': 0.77}, {'connected_gene': 'LOC105371789', 'score': 0.39}]
chr17 GH17I044130 44130529 44131668 0.59 [{'connected_gene': 'ASB16', 'score': 16.23}, {'connected_gene': 'TMEM101', 'score': 7.02}, {'connected_gene': 'RNU6-131P', 'score': 0.77}, {'connected_gene': 'GC17M044136', 'score': 0.77}, {'connected_gene': 'HDAC5', 'score': 0.44}, {'connected_gene': 'GC17M044126', 'score': 0.39}]
chr17 GH17I044115 44115693 44115842 0.92 [{'connected_gene': 'ASB16', 'score': 24.59}, {'connected_gene': 'RNU6-131P', 'score': 11.87}, {'connected_gene': 'C17orf53', 'score': 11.84}, {'connected_gene': 'ENSG00000221044', 'score': 10.63}, {'connected_gene': 'LOC105371789', 'score': 0.77}, {'connected_gene': 'HDAC5', 'score': 0.44}]
chr17 GH17I044132 44132074 44133398 0.87 [{'connected_gene': 'ASB16', 'score': 16.9}, {'connected_gene': 'RNU6-131P', 'score': 0.77}, {'connected_gene': 'GC17M044136', 'score': 0.77}, {'connected_gene': 'HDAC5', 'score': 0.44}, {'connected_gene': 'GC17M044126', 'score': 0.44}]
chr17 GH17I044114 44114102 44114429 0.2 [{'connected_gene': 'ASB16', 'score': 10.88}, {'connected_gene': 'ENSG00000221044', 'score': 10.32}, {'connected_gene': 'LOC105371789', 'score': 0.77}, {'connected_gene': 'HDAC5', 'score': 0.44}]
chr17 GH17I044100 44099040 44099534 0.38 [{'connected_gene': 'ASB16', 'score': 23.45}, {'connected_gene': 'HDAC5', 'score': 11.96}, {'connected_gene': 'ENSG00000221044', 'score': 10.73}, {'connected_gene': 'PYY', 'score': 10.55}, {'connected_gene': 'NAGS', 'score': 10.53}, {'connected_gene': 'PIR35706', 'score': 0.44}, {'connected_gene': 'GC17P044094', 'score': 0.44}, {'connected_gene': 'LOC105371789', 'score': 0.39}]
chr17 GH17I044085 44085844 44088079 1.32 [{'connected_gene': 'ASB16', 'score': 22.56}, {'connected_gene': 'HDAC5', 'score': 11.63}, {'connected_gene': 'RNU6-131P', 'score': 11.49}, {'connected_gene': 'C17orf53', 'score': 11.48}, {'connected_gene': 'FAM171A2', 'score': 9.69}, {'connected_gene': 'ASB16-AS1', 'score': 4.24}, {'connected_gene': 'PIR36554', 'score': 0.77}, {'connected_gene': 'PIR35706', 'score': 0.44}, {'connected_gene': 'GC17P044094', 'score': 0.44}]
chr17 GH17I044116 44116293 44116608 0.31 [{'connected_gene': 'C17orf53', 'score': 11.84}, {'connected_gene': 'ASB16', 'score': 11.77}, {'connected_gene': 'ENSG00000221044', 'score': 10.63}, {'connected_gene': 'TMEM101', 'score': 5.31}, {'connected_gene': 'ENSG00000267505', 'score': 4.6}, {'connected_gene': 'LOC105371789', 'score': 0.44}, {'connected_gene': 'HDAC5', 'score': 0.44}]
chr17 GH17I044118 44118773 44118922 0.63 [{'connected_gene': 'C17orf53', 'score': 11.87}, {'connected_gene': 'ASB16', 'score': 11.77}, {'connected_gene': 'ENSG00000221044', 'score': 10.63}, {'connected_gene': 'HDAC5', 'score': 0.77}, {'connected_gene': 'LOC105371789', 'score': 0.44}]
chr17 GH17I044197 44197228 44201521 2.58 [{'connected_gene': 'ATXN7L3', 'score': 552.22}, {'connected_gene': 'GC17M044204', 'score': 550.77}, {'connected_gene': 'LOC101926967', 'score': 550.77}, {'connected_gene': 'PIR47424', 'score': 550.77}, {'connected_gene': 'ENSG00000267394', 'score': 550.77}, {'connected_gene': 'DBF4B', 'score': 13.38}, {'connected_gene': 'ASB16-AS1', 'score': 12.21}, {'connected_gene': 'DCAKD', 'score': 12.02}, {'connected_gene': 'UBTF', 'score': 11.91}, {'connected_gene': 'DHX8', 'score': 11.15}, {'connected_gene': 'TMUB2', 'score': 9.82}, {'connected_gene': 'GRN', 'score': 8.11}, {'connected_gene': 'LINC00854', 'score': 5.06}, {'connected_gene': 'NAGS', 'score': 4.1}, {'connected_gene': 'TMEM101', 'score': 2.13}, {'connected_gene': 'HDAC5', 'score': 2.11}, {'connected_gene': 'G6PC3', 'score': 1.44}]
chr17 GH17I044202 44202484 44203482 0.96 [{'connected_gene': 'SLC25A39', 'score': 12.16}, {'connected_gene': 'ASB16', 'score': 11.49}, {'connected_gene': 'FAM171A2', 'score': 10.5}, {'connected_gene': 'HDAC5', 'score': 10.02}, {'connected_gene': 'ENSG00000221044', 'score': 8.78}, {'connected_gene': 'ATXN7L3', 'score': 0.77}, {'connected_gene': 'LOC101926967', 'score': 0.77}, {'connected_gene': 'MIR6782', 'score': 0.77}, {'connected_gene': 'ENSG00000267394', 'score': 0.77}]
chr17 GH17I044203 44203600 44205305 1.3 [{'connected_gene': 'ASB16-AS1', 'score': 24.67}, {'connected_gene': 'ASB16', 'score': 20.91}, {'connected_gene': 'UBTF', 'score': 15.17}, {'connected_gene': 'LINC00910', 'score': 13.17}, {'connected_gene': 'DHX8', 'score': 12.9}, {'connected_gene': 'TMUB2', 'score': 12.53}, {'connected_gene': 'SLC25A39', 'score': 12.16}, {'connected_gene': 'FAM171A2', 'score': 10.99}, {'connected_gene': 'HDAC5', 'score': 10.02}, {'connected_gene': 'ENSG00000221044', 'score': 9.48}, {'connected_gene': 'NAGS', 'score': 5.23}, {'connected_gene': 'ENSG00000267505', 'score': 4.86}, {'connected_gene': 'ATXN7L3', 'score': 0.77}, {'connected_gene': 'MIR6782', 'score': 0.77}, {'connected_gene': 'LOC101926967', 'score': 0.44}, {'connected_gene': 'ENSG00000267394', 'score': 0.44}]
chr17 GH17I044101 44101425 44113884 1.98 [{'connected_gene': 'ASB16-AS1', 'score': 28.84}, {'connected_gene': 'ASB16', 'score': 24.11}, {'connected_gene': 'NAGS', 'score': 20.57}, {'connected_gene': 'G6PC3', 'score': 20.48}, {'connected_gene': 'HMGN1P29', 'score': 18.09}, {'connected_gene': 'LINC00910', 'score': 17.36}, {'connected_gene': 'C17orf53', 'score': 16.08}, {'connected_gene': 'ENSG00000267002', 'score': 15.91}, {'connected_gene': 'DHX8', 'score': 15.28}, {'connected_gene': 'TMUB2', 'score': 14.09}, {'connected_gene': 'ENSG00000267340', 'score': 13.58}, {'connected_gene': 'LSM12', 'score': 11.95}, {'connected_gene': 'RNU6-131P', 'score': 11.51}, {'connected_gene': 'TMEM106A', 'score': 10.82}, {'connected_gene': 'PPY', 'score': 10.78}, {'connected_gene': 'PYY', 'score': 10.71}, {'connected_gene': 'ENSG00000221044', 'score': 10.71}, {'connected_gene': 'NBR2', 'score': 9.9}, {'connected_gene': 'RPL29P31', 'score': 5.08}, {'connected_gene': 'LOC105371789', 'score': 0.77}, {'connected_gene': 'PIR35706', 'score': 0.39}, {'connected_gene': 'GC17P044094', 'score': 0.39}, {'connected_gene': 'HDAC5', 'score': 0.37}]
chr17 GH17I044099 44099630 44100588 0.31 [{'connected_gene': 'ASB16-AS1', 'score': 12.67}, {'connected_gene': 'HDAC5', 'score': 11.96}, {'connected_gene': 'ASB16', 'score': 11.26}, {'connected_gene': 'ENSG00000221044', 'score': 10.73}, {'connected_gene': 'PYY', 'score': 10.55}, {'connected_gene': 'NAGS', 'score': 10.52}, {'connected_gene': 'PIR35706', 'score': 0.44}, {'connected_gene': 'GC17P044094', 'score': 0.44}, {'connected_gene': 'LOC105371789', 'score': 0.39}]
chr17 GH17I044076 44076830 44078000 0.87 [{'connected_gene': 'NAGS', 'score': 11.9}, {'connected_gene': 'ENSG00000221044', 'score': 11.29}, {'connected_gene': 'HDAC5', 'score': 11.19}, {'connected_gene': 'G6PC3', 'score': 11.11}, {'connected_gene': 'RNU6-131P', 'score': 10.93}, {'connected_gene': 'C17orf53', 'score': 10.92}, {'connected_gene': 'TMUB2', 'score': 10.42}, {'connected_gene': 'ASB16', 'score': 10.27}, {'connected_gene': 'GC17P044075', 'score': 0.77}, {'connected_gene': 'PIR62395', 'score': 0.77}, {'connected_gene': 'PIR36554', 'score': 0.44}]
chr17 GH17I044117 44115088 44115150 0.4 [{'connected_gene': 'RNU6-131P', 'score': 11.87}, {'connected_gene': 'C17orf53', 'score': 11.84}, {'connected_gene': 'ASB16', 'score': 11.76}, {'connected_gene': 'ENSG00000221044', 'score': 10.63}, {'connected_gene': 'LOC105371789', 'score': 0.77}, {'connected_gene': 'HDAC5', 'score': 0.44}]
chr17 GH17I044121 44121759 44124753 2.26 [{'connected_gene': 'HDAC5', 'score': 550.77}, {'connected_gene': 'ASB16', 'score': 27.93}, {'connected_gene': 'ENSG00000221044', 'score': 10.62}, {'connected_gene': 'DCAKD', 'score': 4.44}, {'connected_gene': 'LOC105371789', 'score': 0.39}]
chr17 GH17I044152 44152425 44153671 0.31 [{'connected_gene': 'HDAC5', 'score': 12.54}, {'connected_gene': 'UBTF', 'score': 10.84}, {'connected_gene': 'PPY', 'score': 10.69}, {'connected_gene': 'ENSG00000221044', 'score': 10.39}, {'connected_gene': 'TMEM101', 'score': 7.36}, {'connected_gene': 'GC17P044157', 'score': 0.77}, {'connected_gene': 'C17orf53', 'score': 0.39}]
chr17 GH17I044092 44092949 44094104 0.31 [{'connected_gene': 'PIR35706', 'score': 550.77}, {'connected_gene': 'GC17P044094', 'score': 550.77}, {'connected_gene': 'ASB16', 'score': 21.73}, {'connected_gene': 'TMEM101', 'score': 21.56}, {'connected_gene': 'G6PC3', 'score': 12.47}, {'connected_gene': 'LSM12', 'score': 12.44}, {'connected_gene': 'HDAC5', 'score': 11.89}, {'connected_gene': 'RNU6-131P', 'score': 11.61}, {'connected_gene': 'C17orf53', 'score': 11.59}, {'connected_gene': 'ENSG00000221044', 'score': 10.91}, {'connected_gene': 'LOC105371789', 'score': 0.37}]
chr17 GH17I044127 44127217 44127742 0.79 [{'connected_gene': 'ENSG00000267505', 'score': 4.09}, {'connected_gene': 'HDAC5', 'score': 0.77}, {'connected_gene': 'RNU6-131P', 'score': 0.44}, {'connected_gene': 'GC17M044136', 'score': 0.44}, {'connected_gene': 'GC17M044126', 'score': 0.39}]
chr17 GH17I044080 44080077 44080239 0.31 [{'connected_gene': 'PIR36554', 'score': 0.77}, {'connected_gene': 'GC17P044075', 'score': 0.44}, {'connected_gene': 'PIR62395', 'score': 0.44}, {'connected_gene': 'HDAC5', 'score': 0.26}]
chr17 GH17I044084 44084293 44084482 0.79 [{'connected_gene': 'PIR36554', 'score': 550.77}, {'connected_gene': 'GC17P044075', 'score': 0.44}, {'connected_gene': 'PIR62395', 'score': 0.44}, {'connected_gene': 'HDAC5', 'score': 0.28}]
chr17 GH17I044083 44083573 44083722 0.94 [{'connected_gene': 'PIR36554', 'score': 550.77}, {'connected_gene': 'GC17P044075', 'score': 0.44}, {'connected_gene': 'PIR62395', 'score': 0.44}, {'connected_gene': 'HDAC5', 'score': 0.26}]
chr17 GH17I044081 44081808 44082362 0.31 [{'connected_gene': 'PIR36554', 'score': 0.77}, {'connected_gene': 'GC17P044075', 'score': 0.44}, {'connected_gene': 'PIR62395', 'score': 0.44}, {'connected_gene': 'HDAC5', 'score': 0.26}]

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