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
ENST00000261937 [[180028505, 180030390], [180035967, 180036053], [180036904, 180037025], [180038330, 180038479], [180039505, 180039611], [180040010, 180040110], [180041067, 180041179], [180043366, 180043489], [180043899, 180043994], [180045769, 180045920], [180046020, 180046109], [180046252, 180046366], [180046664, 180046769], [180047172, 180047308], [180047608, 180047715], [180047875, 180048007], [180048105, 180048252], [180048541, 180048904], [180049730, 180049839], [180050934, 180051061], [180052868, 180053031], [180053110, 180053265], [180055881, 180055999], [180056258, 180056427], [180056695, 180056835], [180056942, 180057105], [180057224, 180057337], [180057554, 180057799], [180058681, 180058778], [180076487, 180076624]] [[180030191, 180030390], [180035967, 180036053], [180036904, 180037025], [180038330, 180038479], [180039505, 180039611], [180040010, 180040110], [180041067, 180041179], [180043366, 180043489], [180043899, 180043994], [180045769, 180045920], [180046020, 180046109], [180046252, 180046366], [180046664, 180046769], [180047172, 180047308], [180047608, 180047715], [180047875, 180048007], [180048105, 180048252], [180048541, 180048904], [180049730, 180049839], [180050934, 180051061], [180052868, 180053031], [180053110, 180053265], [180055881, 180055999], [180056258, 180056427], [180056695, 180056835], [180056942, 180057105], [180057224, 180057337], [180057554, 180057799], [180058681, 180058778], [180076487, 180076545]]
ENST00000502603 [[180030088, 180030390], [180035967, 180036053], [180036904, 180037025], [180038330, 180038716]] None
ENST00000507059 [[180034964, 180035284], [180035967, 180037025], [180038330, 180038479], [180039505, 180039611], [180040010, 180041179], [180043366, 180043489], [180043899, 180043994], [180045769, 180045920], [180046020, 180046109], [180046252, 180046769], [180047172, 180047308], [180047608, 180047715], [180047875, 180048007], [180048105, 180048252], [180048541, 180048904], [180049730, 180049839], [180050934, 180051061], [180052868, 180053031], [180053110, 180053265], [180055881, 180055999], [180056258, 180056338]] None
ENST00000393347 [[180034964, 180035284], [180035967, 180036053], [180036904, 180037025], [180038330, 180038479], [180039505, 180039611], [180040010, 180040110], [180041067, 180041179], [180043366, 180043489], [180043899, 180043994], [180045769, 180045920], [180046020, 180046109], [180046252, 180046366], [180046664, 180046769], [180047172, 180047308], [180047608, 180047715], [180047875, 180048007], [180048105, 180048252], [180048541, 180048904], [180049730, 180049839], [180050934, 180051061], [180052868, 180053031], [180053110, 180053265], [180055881, 180055999], [180056258, 180056427], [180056695, 180056835], [180056942, 180057105], [180057224, 180057337], [180057554, 180057799], [180058681, 180058778], [180076487, 180076624]] [[180035280, 180035284], [180035967, 180036053], [180036904, 180037025], [180038330, 180038479], [180039505, 180039611], [180040010, 180040110], [180041067, 180041179], [180043366, 180043489], [180043899, 180043994], [180045769, 180045920], [180046020, 180046109], [180046252, 180046366], [180046664, 180046769], [180047172, 180047308], [180047608, 180047715], [180047875, 180048007], [180048105, 180048252], [180048541, 180048904], [180049730, 180049839], [180050934, 180051061], [180052868, 180053031], [180053110, 180053265], [180055881, 180055999], [180056258, 180056427], [180056695, 180056835], [180056942, 180057105], [180057224, 180057337], [180057554, 180057799], [180058681, 180058778], [180076487, 180076545]]
ENST00000502649 [[180034967, 180035159], [180035967, 180036053], [180036904, 180037025], [180038330, 180038479], [180039505, 180039611], [180040010, 180040110], [180041067, 180041179], [180043366, 180043489], [180043899, 180043994], [180045769, 180045920], [180046020, 180046109], [180046252, 180046366], [180046664, 180046769], [180047172, 180047308], [180047608, 180047715], [180047875, 180048007], [180048105, 180048252], [180048541, 180048904], [180049730, 180049839], [180050934, 180051061], [180052868, 180053031], [180053110, 180053265], [180055881, 180055999], [180056258, 180056427], [180056695, 180056835], [180056942, 180057105], [180057224, 180057337], [180057554, 180057799], [180058681, 180058778], [180076487, 180076600]] [[180035131, 180035159], [180035967, 180036053], [180036904, 180037025], [180038330, 180038479], [180039505, 180039611], [180040010, 180040110], [180041067, 180041179], [180043366, 180043489], [180043899, 180043994], [180045769, 180045920], [180046020, 180046109], [180046252, 180046366], [180046664, 180046769], [180047172, 180047308], [180047608, 180047715], [180047875, 180048007], [180048105, 180048252], [180048541, 180048904], [180049730, 180049839], [180050934, 180051061], [180052868, 180053031], [180053110, 180053265], [180055881, 180055999], [180056258, 180056427], [180056695, 180056835], [180056942, 180057105], [180057224, 180057337], [180057554, 180057799], [180058681, 180058778], [180076487, 180076545]]
ENST00000510000 [[180039402, 180039611], [180040010, 180040393]] None
ENST00000514810 [[180041075, 180041179], [180043366, 180043489], [180043899, 180043994], [180045769, 180046137]] None
ENST00000512795 [[180041085, 180041179], [180043366, 180043489], [180043899, 180043994], [180045769, 180045920], [180046252, 180046369]] [[180041085, 180041179], [180043366, 180043489], [180043899, 180043994], [180045769, 180045884]]
ENST00000424276 [[180047974, 180048252], [180048541, 180048904], [180049730, 180049839], [180050934, 180051061], [180052868, 180053031], [180053110, 180053265], [180055881, 180055999], [180056258, 180056427], [180056695, 180056835], [180056942, 180057105], [180057224, 180057337], [180057554, 180057799], [180058681, 180058778], [180076487, 180076545]] None
ENST00000502293 [[180055927, 180055999], [180056695, 180056835], [180056942, 180057105], [180057224, 180057337], [180057554, 180057799], [180058681, 180058778], [180076487, 180076545]] None
ENST00000513527 [[180056778, 180056835], [180056942, 180057105], [180057224, 180057288], [180057554, 180057799], [180058681, 180058778], [180076487, 180076545]] None
NM_182925 [[180028505, 180030390], [180035967, 180036053], [180036904, 180037025], [180038330, 180038479], [180039505, 180039611], [180040010, 180040110], [180041067, 180041179], [180043366, 180043489], [180043899, 180043994], [180045769, 180045920], [180046020, 180046109], [180046252, 180046366], [180046664, 180046769], [180047172, 180047308], [180047608, 180047715], [180047875, 180048007], [180048105, 180048252], [180048541, 180048904], [180049730, 180049839], [180050934, 180051061], [180052868, 180053031], [180053110, 180053265], [180055881, 180055999], [180056258, 180056427], [180056695, 180056835], [180056942, 180057105], [180057224, 180057337], [180057554, 180057799], [180058681, 180058778], [180076487, 180076624]] [[180030191, 180030390], [180035967, 180036053], [180036904, 180037025], [180038330, 180038479], [180039505, 180039611], [180040010, 180040110], [180041067, 180041179], [180043366, 180043489], [180043899, 180043994], [180045769, 180045920], [180046020, 180046109], [180046252, 180046366], [180046664, 180046769], [180047172, 180047308], [180047608, 180047715], [180047875, 180048007], [180048105, 180048252], [180048541, 180048904], [180049730, 180049839], [180050934, 180051061], [180052868, 180053031], [180053110, 180053265], [180055881, 180055999], [180056258, 180056427], [180056695, 180056835], [180056942, 180057105], [180057224, 180057337], [180057554, 180057799], [180058681, 180058778], [180076487, 180076545]]
NM_002020 [[180034752, 180035284], [180035967, 180036053], [180036904, 180037025], [180038330, 180038479], [180039505, 180039611], [180040010, 180040110], [180041067, 180041179], [180043366, 180043489], [180043899, 180043994], [180045769, 180045920], [180046020, 180046109], [180046252, 180046366], [180046664, 180046769], [180047172, 180047308], [180047608, 180047715], [180047875, 180048007], [180048105, 180048252], [180048541, 180048904], [180049730, 180049839], [180050934, 180051061], [180052868, 180053031], [180053110, 180053265], [180055881, 180055999], [180056258, 180056427], [180056695, 180056835], [180056942, 180057105], [180057224, 180057337], [180057554, 180057799], [180058681, 180058778], [180076487, 180076624]] [[180035280, 180035284], [180035967, 180036053], [180036904, 180037025], [180038330, 180038479], [180039505, 180039611], [180040010, 180040110], [180041067, 180041179], [180043366, 180043489], [180043899, 180043994], [180045769, 180045920], [180046020, 180046109], [180046252, 180046366], [180046664, 180046769], [180047172, 180047308], [180047608, 180047715], [180047875, 180048007], [180048105, 180048252], [180048541, 180048904], [180049730, 180049839], [180050934, 180051061], [180052868, 180053031], [180053110, 180053265], [180055881, 180055999], [180056258, 180056427], [180056695, 180056835], [180056942, 180057105], [180057224, 180057337], [180057554, 180057799], [180058681, 180058778], [180076487, 180076545]]
Promoter
Chrom Start End Description
chr5 180046303 180046317 CAGE_peak_4_at_FLT4_5end
chr5 180076580 180076605 CAGE_peak_1_at_FLT4_5end
chr5 180076613 180076634 CAGE_peak_2_at_FLT4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I180560 180560714 180564264 0.85 [{'connected_gene': 'SCGB3A1', 'score': 52.38}, {'connected_gene': 'FLT4', 'score': 12.01}, {'connected_gene': 'CNOT6', 'score': 11.56}, {'connected_gene': 'ENSG00000248367', 'score': 9.71}, {'connected_gene': 'GC05P180580', 'score': 0.37}, {'connected_gene': 'LOC100329129', 'score': 0.31}]
chr5 GH05I180644 180644814 180646859 0.6 [{'connected_gene': 'FLT4', 'score': 0.77}, {'connected_gene': 'GC05M180610', 'score': 0.28}, {'connected_gene': 'PIR50427', 'score': 0.28}]
chr5 GH05I180618 180618800 180619401 1.04 [{'connected_gene': 'FLT4', 'score': 11.93}, {'connected_gene': 'GC05M180610', 'score': 0.39}, {'connected_gene': 'PIR50427', 'score': 0.39}]
chr5 GH05I180623 180623201 180623800 0.49 [{'connected_gene': 'FLT4', 'score': 12.35}, {'connected_gene': 'GC05M180610', 'score': 0.39}, {'connected_gene': 'PIR50427', 'score': 0.39}]
chr5 GH05I180649 180649200 180649801 1.47 [{'connected_gene': 'FLT4', 'score': 550.77}, {'connected_gene': 'GC05M180610', 'score': 0.26}, {'connected_gene': 'PIR50427', 'score': 0.26}]
chr5 GH05I180606 180606061 180606210 0.65 [{'connected_gene': 'GC05M180610', 'score': 0.77}, {'connected_gene': 'PIR50427', 'score': 0.77}, {'connected_gene': 'SCGB3A1', 'score': 0.39}, {'connected_gene': 'FLT4', 'score': 0.26}]
chr5 GH05I180688 180688116 180691389 0.93 [{'connected_gene': 'PIR40400', 'score': 550.77}, {'connected_gene': 'GC05P181026', 'score': 550.77}, {'connected_gene': 'PIR57207', 'score': 550.77}, {'connected_gene': 'GC05P181038', 'score': 550.77}, {'connected_gene': 'PIR46573', 'score': 550.77}, {'connected_gene': 'FLT4', 'score': 11.7}, {'connected_gene': 'OR2Y1', 'score': 11.44}, {'connected_gene': 'MGAT1', 'score': 5.08}, {'connected_gene': 'GC05P181030', 'score': 0.77}, {'connected_gene': 'PIR39363', 'score': 0.77}, {'connected_gene': 'PIRC22', 'score': 0.34}]