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
ENST00000392738 [[99880189, 99883722], [99885121, 99885275], [99887644, 99887731], [99891440, 99891538], [99893672, 99894339], [99912479, 99912623], [99912955, 99913012], [99924018, 99924106], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956658], [99957996, 99958106], [99962729, 99963252]] [[99883591, 99883722], [99885121, 99885275], [99887644, 99887731], [99891440, 99891538], [99893672, 99894339], [99912479, 99912623], [99912955, 99913012], [99924018, 99924106], [99936075, 99936134]]
ENST00000500704 [[99880254, 99883722], [99885121, 99885275], [99887644, 99887731], [99891440, 99891538], [99893672, 99894339], [99912479, 99912623], [99912955, 99913012], [99914547, 99914639], [99916412, 99916494], [99924018, 99924106], [99930628, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956658], [99957996, 99958106], [99963267, 99963301]] [[99883591, 99883722], [99885121, 99885275], [99887644, 99887731], [99891440, 99891538], [99893672, 99894339], [99912479, 99912623], [99912955, 99913012], [99914547, 99914639], [99916412, 99916494], [99924018, 99924106], [99930628, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956658], [99957996, 99958096]]
ENST00000496518 [[99880311, 99883722], [99885121, 99885275], [99887644, 99887731], [99891440, 99891538], [99893672, 99894339], [99912479, 99912623], [99912955, 99913012], [99924018, 99924106], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956657]] [[99924091, 99924106], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956657]]
ENST00000327681 [[99880314, 99883722], [99885121, 99885275], [99887644, 99887731], [99891440, 99891538], [99893672, 99894339], [99912479, 99912623], [99912955, 99913012], [99914547, 99914639], [99916412, 99916494], [99924018, 99924106], [99930628, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956658], [99957996, 99958106], [99962729, 99963252]] [[99883591, 99883722], [99885121, 99885275], [99887644, 99887731], [99891440, 99891538], [99893672, 99894339], [99912479, 99912623], [99912955, 99913012], [99914547, 99914639], [99916412, 99916494], [99924018, 99924106], [99930628, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956658], [99957996, 99958096]]
ENST00000539675 [[99880316, 99883722], [99885121, 99885275], [99887644, 99887731], [99891440, 99891538], [99912479, 99912512]] [[99883591, 99883722], [99885121, 99885275], [99887644, 99887683]]
ENST00000369233 [[99883419, 99883722], [99885121, 99885275], [99887644, 99887731], [99891440, 99891538], [99893672, 99894339], [99912955, 99913012], [99914547, 99914639], [99916412, 99916494], [99924018, 99924106], [99930628, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956658], [99957996, 99958106], [99963267, 99963298]] [[99883591, 99883722], [99885121, 99885275], [99887644, 99887731], [99891440, 99891538], [99893672, 99894339], [99912955, 99913012], [99914547, 99914639], [99916412, 99916494], [99924018, 99924106], [99930628, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956658], [99957996, 99958096]]
ENST00000513344 [[99893837, 99894339], [99912479, 99912778]] None
ENST00000506871 [[99910339, 99910691], [99912479, 99912623], [99912955, 99913012], [99914547, 99914639], [99915975, 99916046], [99916412, 99916494], [99924018, 99924106], [99930628, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956658], [99957996, 99958106]] [[99916023, 99916046], [99916412, 99916494], [99924018, 99924106], [99930628, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956658], [99957996, 99958096]]
ENST00000511403 [[99910471, 99910691], [99912479, 99912623], [99912955, 99913012], [99924018, 99924106], [99930628, 99930741]] [[99910685, 99910691], [99912479, 99912623], [99912955, 99913012], [99924018, 99924106], [99930628, 99930741]]
ENST00000496090 [[99910473, 99910691], [99912479, 99912623], [99912955, 99913012], [99914547, 99914639], [99916412, 99916494], [99924018, 99924083]] [[99910685, 99910691], [99912479, 99912623], [99912955, 99913012], [99914547, 99914639], [99916412, 99916494], [99924018, 99924083]]
ENST00000507717 [[99912511, 99912623], [99912955, 99913012], [99916412, 99916494], [99924018, 99924106], [99930628, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951649]] [[99912983, 99913012], [99916412, 99916494], [99924018, 99924106], [99930628, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951649]]
ENST00000329966 [[99930137, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956658], [99957996, 99958106], [99963267, 99963365]] [[99930603, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956658], [99957996, 99958096]]
ENST00000472914 [[99930389, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956658], [99957996, 99958106], [99962729, 99963252]] [[99930603, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956658], [99957996, 99958096]]
ENST00000369232 [[99949618, 99949885], [99951640, 99951741], [99955303, 99955407], [99956485, 99956658], [99957996, 99958106], [99963267, 99963294]] None
ENST00000369231 [[99949814, 99949885], [99951640, 99951741], [99955303, 99955407], [99956485, 99956658], [99957996, 99958116]] [[99949814, 99949885], [99951640, 99951741], [99955303, 99955407], [99956485, 99956658], [99957996, 99958096]]
ENST00000508908 [[99956601, 99956658], [99957996, 99958106], [99968815, 99969039], [99969526, 99969604]] [[99956601, 99956658], [99957996, 99958096]]
NM_001346021 [[99880181, 99883722], [99885121, 99885275], [99887644, 99887731], [99891440, 99891538], [99893672, 99894339], [99912479, 99912623], [99912955, 99913012], [99914547, 99914639], [99916412, 99916494], [99924018, 99924106], [99930628, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956658], [99957996, 99958106], [99961916, 99963252]] [[99883591, 99883722], [99885121, 99885275], [99887644, 99887731], [99891440, 99891538], [99893672, 99894339], [99912479, 99912623], [99912955, 99913012], [99914547, 99914639], [99916412, 99916494], [99924018, 99924106], [99930628, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956658], [99957996, 99958096]]
NM_001346029 [[99880181, 99883722], [99885121, 99885275], [99887644, 99887731], [99891440, 99891538], [99893672, 99894339], [99912479, 99912623], [99912955, 99913012], [99916412, 99916494], [99924018, 99924106], [99927641, 99927778], [99930628, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956655], [99957996, 99958106], [99961916, 99963252]] [[99883591, 99883722], [99885121, 99885275], [99887644, 99887731], [99891440, 99891538], [99893672, 99894339], [99912479, 99912623], [99912955, 99913012], [99916412, 99916439]]
NM_001080481 [[99880181, 99883722], [99885121, 99885275], [99887644, 99887731], [99891440, 99891538], [99893672, 99894339], [99912479, 99912623], [99912955, 99913012], [99914547, 99914639], [99916412, 99916494], [99924018, 99924106], [99930628, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956658], [99957996, 99958106], [99962729, 99963252]] [[99883591, 99883722], [99885121, 99885275], [99887644, 99887731], [99891440, 99891538], [99893672, 99894339], [99912479, 99912623], [99912955, 99913012], [99914547, 99914639], [99916412, 99916494], [99924018, 99924106], [99930628, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956658], [99957996, 99958096]]
NM_001346027 [[99880181, 99883722], [99885121, 99885275], [99887644, 99887731], [99891440, 99891538], [99893672, 99894339], [99912479, 99912623], [99912955, 99913012], [99916412, 99916494], [99924018, 99924106], [99927641, 99927778], [99930628, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956658], [99957996, 99958106], [99963267, 99963365]] [[99883591, 99883722], [99885121, 99885275], [99887644, 99887731], [99891440, 99891538], [99893672, 99894339], [99912479, 99912623], [99912955, 99913012], [99916412, 99916439]]
NR_144346 [[99880181, 99883722], [99885121, 99885275], [99891440, 99891538], [99893672, 99894226], [99912479, 99912623], [99912955, 99913012], [99916412, 99916494], [99924018, 99924106], [99927641, 99927778], [99930628, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956658], [99957996, 99958106], [99963267, 99963365]] None
NM_001346022 [[99880181, 99883722], [99885121, 99885275], [99887644, 99887731], [99891440, 99891538], [99893672, 99894339], [99912479, 99912623], [99912955, 99913012], [99914547, 99914639], [99916412, 99916494], [99924018, 99924106], [99930628, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956658], [99957996, 99958106], [99963267, 99963365]] [[99883591, 99883722], [99885121, 99885275], [99887644, 99887731], [99891440, 99891538], [99893672, 99894339], [99912479, 99912623], [99912955, 99913012], [99914547, 99914639], [99916412, 99916494], [99924018, 99924106], [99930628, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956658], [99957996, 99958096]]
NM_001346026 [[99880181, 99883722], [99887644, 99887731], [99891440, 99891538], [99893672, 99894339], [99912479, 99912623], [99912955, 99913012], [99914547, 99914639], [99916412, 99916494], [99924018, 99924106], [99930628, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956658], [99957996, 99958106], [99963267, 99963365]] [[99883716, 99883722], [99887644, 99887731], [99891440, 99891538], [99893672, 99894339], [99912479, 99912623], [99912955, 99913012], [99914547, 99914639], [99916412, 99916494], [99924018, 99924106], [99930628, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956658], [99957996, 99958096]]
NR_144345 [[99880181, 99883722], [99885121, 99885275], [99887644, 99887731], [99891440, 99891538], [99912479, 99912623], [99912955, 99913012], [99914547, 99914639], [99916412, 99916494], [99924018, 99924106], [99930628, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956658], [99957996, 99958106], [99963267, 99963365]] None
NM_001346028 [[99880181, 99883722], [99885121, 99885275], [99887644, 99887731], [99891440, 99891538], [99893672, 99894339], [99912479, 99912623], [99912955, 99913012], [99916412, 99916494], [99924018, 99924106], [99930628, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956658], [99957996, 99958106], [99963267, 99963365]] [[99883591, 99883722], [99885121, 99885275], [99887644, 99887731], [99891440, 99891538], [99893672, 99894339], [99912479, 99912623], [99912955, 99913012], [99916412, 99916439]]
NR_144344 [[99880181, 99883722], [99887644, 99887731], [99891440, 99891538], [99893672, 99894339], [99912479, 99912623], [99912955, 99913012], [99916412, 99916494], [99924018, 99924106], [99930628, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956658], [99957996, 99958106], [99963267, 99963365]] None
NM_001346024 [[99880181, 99883722], [99885121, 99885275], [99887644, 99887731], [99891440, 99891538], [99893672, 99894339], [99912479, 99912623], [99912955, 99913012], [99924018, 99924106], [99930628, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956658], [99957996, 99958106], [99963267, 99963365]] [[99883591, 99883722], [99885121, 99885275], [99887644, 99887731], [99891440, 99891538], [99893672, 99894339], [99912479, 99912623], [99912955, 99913012], [99924018, 99924106], [99930628, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956658], [99957996, 99958096]]
NM_001346023 [[99880181, 99883722], [99885121, 99885275], [99887644, 99887731], [99891440, 99891538], [99893672, 99894339], [99912479, 99912623], [99912955, 99913012], [99914547, 99914639], [99916412, 99916494], [99924018, 99924106], [99930628, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956655], [99957996, 99958106], [99963267, 99963365]] [[99883591, 99883722], [99885121, 99885275], [99887644, 99887731], [99891440, 99891538], [99893672, 99894339], [99912479, 99912623], [99912955, 99913012], [99914547, 99914639], [99916412, 99916494], [99924018, 99924106], [99930628, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956655], [99957996, 99958096]]
NM_001346025 [[99880181, 99883722], [99885121, 99885275], [99887644, 99887731], [99891440, 99891538], [99893672, 99894339], [99912479, 99912623], [99912955, 99913012], [99924018, 99924106], [99930628, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956655], [99957996, 99958106], [99963267, 99963365]] [[99883591, 99883722], [99885121, 99885275], [99887644, 99887731], [99891440, 99891538], [99893672, 99894339], [99912479, 99912623], [99912955, 99913012], [99924018, 99924106], [99930628, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956655], [99957996, 99958096]]
NR_144347 [[99906839, 99910691], [99912479, 99912623], [99912955, 99913012], [99914547, 99914639], [99916412, 99916494], [99924018, 99924106], [99927641, 99927778], [99930628, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956658], [99957996, 99958106], [99963267, 99963365]] None
NM_001346030 [[99906839, 99910691], [99912479, 99912623], [99912955, 99913012], [99914547, 99914639], [99916412, 99916494], [99924018, 99924106], [99930628, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956658], [99957996, 99958106], [99963267, 99963365]] [[99910685, 99910691], [99912479, 99912623], [99912955, 99913012], [99914547, 99914639], [99916412, 99916494], [99924018, 99924106], [99930628, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956658], [99957996, 99958096]]
NR_144348 [[99906839, 99910691], [99912479, 99912623], [99912955, 99913012], [99916412, 99916494], [99924018, 99924106], [99930628, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956658], [99957996, 99958106], [99963267, 99963365]] None
NM_001346033 [[99930139, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956658], [99957996, 99958106], [99962729, 99963252]] [[99930603, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956658], [99957996, 99958096]]
NM_032929 [[99930139, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956658], [99957996, 99958106], [99963267, 99963365]] [[99930603, 99930759], [99936075, 99936171], [99936556, 99936696], [99951640, 99951741], [99955303, 99955407], [99956485, 99956658], [99957996, 99958096]]
Promoter
Chrom Start End Description
chr6 99962947 99962954 CAGE_peak_7_at_USP45_5end
chr6 99963255 99963264 CAGE_peak_2_at_USP45_5end
chr6 99963286 99963323 CAGE_peak_1_at_USP45_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I099554 99554483 99554854 0.28 [{'connected_gene': 'USP45', 'score': 8.61}, {'connected_gene': 'PNISR', 'score': 1.5}, {'connected_gene': 'CCNC', 'score': 0.39}, {'connected_gene': 'ENSG00000272017', 'score': 0.39}, {'connected_gene': 'ENSG00000274603', 'score': 0.31}, {'connected_gene': 'TSTD3', 'score': 0.29}]
chr6 GH06I099513 99513994 99516765 2.04 [{'connected_gene': 'USP45', 'score': 550.44}, {'connected_gene': 'RPS3P5', 'score': 44.55}, {'connected_gene': 'LOC101927365', 'score': 19.76}, {'connected_gene': 'CCNC', 'score': 12.03}, {'connected_gene': 'PNISR', 'score': 11.04}, {'connected_gene': 'ENSG00000272017', 'score': 4.94}, {'connected_gene': 'TSTD3', 'score': 0.44}, {'connected_gene': 'PIR43976', 'score': 0.29}]
chr6 GH06I098845 98845665 98845954 1.35 [{'connected_gene': 'PNISR', 'score': 11.99}, {'connected_gene': 'USP45', 'score': 11.08}, {'connected_gene': 'POU3F2', 'score': 9.71}, {'connected_gene': 'GC06M098840', 'score': 0.77}, {'connected_gene': 'FBXL4', 'score': 0.15}]
chr6 GH06I099547 99547483 99547965 0.45 [{'connected_gene': 'LOC101927365', 'score': 10.0}, {'connected_gene': 'USP45', 'score': 8.66}, {'connected_gene': 'PNISR', 'score': 1.87}, {'connected_gene': 'ENSG00000274603', 'score': 0.34}, {'connected_gene': 'CCNC', 'score': 0.34}, {'connected_gene': 'ENSG00000272017', 'score': 0.34}, {'connected_gene': 'TSTD3', 'score': 0.31}]
chr6 GH06I099453 99453696 99453890 0.22 [{'connected_gene': 'LOC101927365', 'score': 26.77}, {'connected_gene': 'PIR43976', 'score': 0.31}, {'connected_gene': 'PIR50054', 'score': 0.31}, {'connected_gene': 'USP45', 'score': 0.2}]
chr6 GH06I099514 99513270 99513440 0.43 [{'connected_gene': 'RPS3P5', 'score': 45.28}, {'connected_gene': 'CCNC', 'score': 11.46}, {'connected_gene': 'LOC101927365', 'score': 11.05}, {'connected_gene': 'PNISR', 'score': 11.05}, {'connected_gene': 'TSTD3', 'score': 0.44}, {'connected_gene': 'USP45', 'score': 0.44}, {'connected_gene': 'PIR43976', 'score': 0.29}]
chr6 GH06I099512 99512801 99513200 0.54 [{'connected_gene': 'RPS3P5', 'score': 45.28}, {'connected_gene': 'CCNC', 'score': 11.46}, {'connected_gene': 'LOC101927365', 'score': 11.05}, {'connected_gene': 'PNISR', 'score': 11.05}, {'connected_gene': 'TSTD3', 'score': 0.44}, {'connected_gene': 'USP45', 'score': 0.44}, {'connected_gene': 'PIR43976', 'score': 0.29}]
chr6 GH06I099810 99810717 99811765 0.54 [{'connected_gene': 'RPS3P5', 'score': 20.3}, {'connected_gene': 'USP45', 'score': 4.59}, {'connected_gene': 'ENSG00000199303', 'score': 0.1}, {'connected_gene': 'GC06M099643', 'score': 0.1}, {'connected_gene': 'MCHR2-AS1', 'score': 0.09}]
chr6 GH06I099484 99484071 99486415 0.57 [{'connected_gene': 'RPS3P5', 'score': 30.24}, {'connected_gene': 'LOC101927365', 'score': 24.77}, {'connected_gene': 'TSTD3', 'score': 12.0}, {'connected_gene': 'USP45', 'score': 12.0}, {'connected_gene': 'PNISR', 'score': 11.7}, {'connected_gene': 'PIR43976', 'score': 0.77}]
chr6 GH06I099520 99520357 99523035 1.52 [{'connected_gene': 'TSTD3', 'score': 550.77}, {'connected_gene': 'USP45', 'score': 550.77}, {'connected_gene': 'RPS3P5', 'score': 34.06}, {'connected_gene': 'LOC101927365', 'score': 17.94}]
chr6 GH06I099498 99498401 99498600 0.2 [{'connected_gene': 'TSTD3', 'score': 11.87}, {'connected_gene': 'USP45', 'score': 11.87}, {'connected_gene': 'PIR43976', 'score': 0.37}]
chr6 GH06I099566 99566760 99569400 2.13 [{'connected_gene': 'ENSG00000272017', 'score': 572.1}, {'connected_gene': 'CCNC', 'score': 550.77}, {'connected_gene': 'PNISR', 'score': 61.34}, {'connected_gene': 'LOC101927365', 'score': 50.54}, {'connected_gene': 'USP45', 'score': 42.17}, {'connected_gene': 'RPS3P5', 'score': 38.98}, {'connected_gene': 'FBXL4', 'score': 29.12}, {'connected_gene': 'TSTD3', 'score': 12.71}, {'connected_gene': 'ENSG00000274603', 'score': 0.26}]

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