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
ENST00000262903 [[105175967, 105177639], [105178177, 105178291], [105192034, 105192105], [105192386, 105192485], [105198215, 105198347], [105219067, 105219264], [105219799, 105219949], [105224615, 105224703], [105224887, 105224985], [105225080, 105225192], [105231960, 105232048], [105232291, 105232360], [105232859, 105233194], [105239378, 105239529], [105243453, 105243560], [105244529, 105244631], [105244803, 105244900], [105259185, 105259268], [105280916, 105281048], [105291097, 105291173], [105297016, 105297121], [105298781, 105298871], [105300191, 105300246], [105307441, 105307794]] [[105177536, 105177639], [105178177, 105178291], [105192034, 105192105], [105192386, 105192485], [105198215, 105198347], [105219067, 105219264], [105219799, 105219949], [105224615, 105224703], [105224887, 105224985], [105225080, 105225192], [105231960, 105232048], [105232291, 105232360], [105232859, 105233194], [105239378, 105239529], [105243453, 105243560], [105244529, 105244631], [105244803, 105244900], [105259185, 105259268], [105280916, 105281048], [105291097, 105291173], [105297016, 105297121], [105298781, 105298871], [105300191, 105300246], [105307441, 105307517]]
ENST00000416605 [[105175971, 105177639], [105178177, 105178291], [105192034, 105192105], [105192386, 105192485], [105198215, 105198347], [105219067, 105219264], [105219799, 105219949], [105224615, 105224703], [105224887, 105224985], [105225080, 105225192], [105228227, 105228332], [105231960, 105232048], [105232291, 105232360], [105232859, 105233194], [105239378, 105239529], [105243453, 105243560], [105244529, 105244631], [105244803, 105244900], [105259185, 105259268], [105272688, 105272782], [105280916, 105281048], [105291097, 105291173], [105297016, 105297121], [105298781, 105298871], [105300191, 105300246], [105307441, 105307752]] [[105272779, 105272782], [105280916, 105281048], [105291097, 105291173], [105297016, 105297121], [105298781, 105298871], [105300191, 105300246], [105307441, 105307517]]
ENST00000369125 [[105176796, 105177639], [105178177, 105178291], [105192034, 105192105], [105192386, 105192485], [105198215, 105198347], [105231960, 105232048], [105232291, 105232360], [105232859, 105233194], [105239378, 105239529], [105243453, 105243560], [105244529, 105244631], [105244803, 105244900], [105259185, 105259268], [105280916, 105281048], [105291097, 105291173], [105297016, 105297121], [105298781, 105298871], [105300191, 105300246], [105307441, 105307794]] [[105177536, 105177639], [105178177, 105178291], [105192034, 105192105], [105192386, 105192485], [105198215, 105198347], [105231960, 105232048], [105232291, 105232360], [105232859, 105233194], [105239378, 105239529], [105243453, 105243560], [105244529, 105244631], [105244803, 105244900], [105259185, 105259268], [105280916, 105281048], [105291097, 105291173], [105297016, 105297121], [105298781, 105298871], [105300191, 105300246], [105307441, 105307517]]
ENST00000519645 [[105244591, 105244631], [105244803, 105244900], [105259185, 105259268], [105291097, 105291173], [105297016, 105297121], [105298781, 105298871], [105300191, 105300246], [105307441, 105307754]] [[105244591, 105244631], [105244803, 105244900], [105259185, 105259268], [105291097, 105291173], [105297016, 105297121], [105298781, 105298871], [105300191, 105300246], [105307441, 105307517]]
ENST00000369127 [[105175969, 105177639], [105178177, 105178291], [105192034, 105192105], [105192386, 105192485], [105198215, 105198347], [105219067, 105219264], [105219799, 105219949], [105224615, 105224703], [105224887, 105224985], [105225080, 105225192], [105231960, 105232048], [105232291, 105232360], [105232859, 105235289]] None
ENST00000517995 [[105175971, 105177639], [105178177, 105178291], [105192034, 105192105], [105192386, 105192485], [105198215, 105198347], [105219067, 105219264], [105219799, 105219949], [105224615, 105224703], [105224887, 105224972], [105225080, 105225192], [105230237, 105230330]] None
ENST00000518402 [[105176916, 105177639], [105178177, 105178291], [105192034, 105192105], [105192386, 105192485], [105219067, 105219264], [105219799, 105219949], [105224615, 105224703], [105224887, 105224966]] [[105177536, 105177639], [105178177, 105178291], [105192034, 105192105], [105192386, 105192485], [105219067, 105219264], [105219799, 105219949], [105224615, 105224703], [105224887, 105224966]]
ENST00000518503 [[105176916, 105177639], [105178177, 105178291], [105192034, 105192048], [105192386, 105192485], [105219067, 105219264], [105219799, 105219949], [105224615, 105224703], [105224887, 105224985], [105225080, 105225192], [105231960, 105231973]] [[105177536, 105177639], [105178177, 105178291], [105192034, 105192048], [105192386, 105192485], [105219067, 105219264], [105219799, 105219949], [105224615, 105224703], [105224887, 105224985], [105225080, 105225192], [105231960, 105231973]]
ENST00000518228 [[105177044, 105177639], [105178177, 105180245]] None
ENST00000517424 [[105177192, 105177639], [105178177, 105178291], [105192034, 105192105], [105192386, 105192485], [105198215, 105198347], [105219067, 105219264], [105219799, 105219949], [105224615, 105224703], [105224887, 105224972], [105225080, 105225192], [105231960, 105232048], [105232291, 105232360], [105232859, 105233073]] [[105224928, 105224972], [105225080, 105225192], [105231960, 105232048], [105232291, 105232360], [105232859, 105233073]]
ENST00000524020 [[105280934, 105281048], [105291097, 105291173], [105297016, 105297121], [105298781, 105298871], [105300191, 105300246], [105307253, 105307435]] [[105280934, 105281048], [105291097, 105291173], [105297016, 105297121], [105298781, 105298871], [105300191, 105300220]]
ENST00000521962 [[105291097, 105291173], [105297016, 105297121], [105298781, 105298871], [105300191, 105300246], [105306268, 105306407], [105307253, 105307311], [105307441, 105307479]] [[105306370, 105306407], [105307253, 105307311], [105307441, 105307479]]
NM_001321083 [[105175967, 105177639], [105178177, 105178291], [105192034, 105192105], [105192386, 105192485], [105198215, 105198347], [105219067, 105219264], [105219799, 105219949], [105224615, 105224703], [105224887, 105224985], [105225080, 105225192], [105231960, 105232048], [105232291, 105232360], [105232859, 105233194], [105239378, 105239529], [105243453, 105243560], [105244529, 105244631], [105244803, 105244900], [105259185, 105259268], [105280916, 105281048], [105291097, 105291173], [105297016, 105297121], [105298781, 105298871], [105300191, 105300246], [105307253, 105307421]] [[105177536, 105177639], [105178177, 105178291], [105192034, 105192105], [105192386, 105192485], [105198215, 105198347], [105219067, 105219264], [105219799, 105219949], [105224615, 105224703], [105224887, 105224985], [105225080, 105225192], [105231960, 105232048], [105232291, 105232360], [105232859, 105233194], [105239378, 105239529], [105243453, 105243560], [105244529, 105244631], [105244803, 105244900], [105259185, 105259268], [105280916, 105281048], [105291097, 105291173], [105297016, 105297121], [105298781, 105298871], [105300191, 105300220]]
NM_001321084 [[105175967, 105177639], [105178177, 105178291], [105192034, 105192105], [105192386, 105192485], [105198215, 105198347], [105219067, 105219264], [105219799, 105219949], [105224615, 105224703], [105224887, 105224985], [105225080, 105225192], [105231960, 105232048], [105232291, 105232360], [105232859, 105233194], [105239378, 105239529], [105243453, 105243560], [105244529, 105244631], [105244803, 105244900], [105280916, 105281048], [105291097, 105291173], [105297016, 105297121], [105298781, 105298871], [105300191, 105300246], [105307253, 105307421]] [[105177536, 105177639], [105178177, 105178291], [105192034, 105192105], [105192386, 105192485], [105198215, 105198347], [105219067, 105219264], [105219799, 105219949], [105224615, 105224703], [105224887, 105224985], [105225080, 105225192], [105231960, 105232048], [105232291, 105232360], [105232859, 105233194], [105239378, 105239529], [105243453, 105243560], [105244529, 105244631], [105244803, 105244900], [105280916, 105281029]]
NR_104424 [[105175967, 105177639], [105178177, 105178291], [105192034, 105192105], [105192386, 105192485], [105198215, 105198347], [105219067, 105219264], [105219799, 105219949], [105224615, 105224703], [105224887, 105224985], [105225080, 105225192], [105228227, 105228332], [105231960, 105232048], [105232291, 105232360], [105232859, 105233194], [105239378, 105239529], [105243453, 105243560], [105244529, 105244631], [105244803, 105244900], [105259185, 105259268], [105272688, 105272782], [105280916, 105281048], [105291097, 105291173], [105297016, 105297121], [105298781, 105298871], [105300191, 105300246], [105307441, 105307794]] None
NM_020771 [[105175967, 105177639], [105178177, 105178291], [105192034, 105192105], [105192386, 105192485], [105198215, 105198347], [105219067, 105219264], [105219799, 105219949], [105224615, 105224703], [105224887, 105224985], [105225080, 105225192], [105231960, 105232048], [105232291, 105232360], [105232859, 105233194], [105239378, 105239529], [105243453, 105243560], [105244529, 105244631], [105244803, 105244900], [105259185, 105259268], [105280916, 105281048], [105291097, 105291173], [105297016, 105297121], [105298781, 105298871], [105300191, 105300246], [105307441, 105307794]] [[105177536, 105177639], [105178177, 105178291], [105192034, 105192105], [105192386, 105192485], [105198215, 105198347], [105219067, 105219264], [105219799, 105219949], [105224615, 105224703], [105224887, 105224985], [105225080, 105225192], [105231960, 105232048], [105232291, 105232360], [105232859, 105233194], [105239378, 105239529], [105243453, 105243560], [105244529, 105244631], [105244803, 105244900], [105259185, 105259268], [105280916, 105281048], [105291097, 105291173], [105297016, 105297121], [105298781, 105298871], [105300191, 105300246], [105307441, 105307517]]
NM_001321080 [[105175967, 105177639], [105178177, 105178291], [105192034, 105192105], [105192386, 105192485], [105198215, 105198347], [105219067, 105219264], [105219799, 105219949], [105224615, 105224703], [105224887, 105224985], [105225080, 105225192], [105231960, 105232048], [105232291, 105232360], [105232859, 105233194], [105239378, 105239529], [105243453, 105243560], [105244529, 105244631], [105244803, 105244900], [105259185, 105259268], [105291097, 105291173], [105297016, 105297121], [105298781, 105298871], [105300191, 105300246], [105307441, 105307794]] [[105177536, 105177639], [105178177, 105178291], [105192034, 105192105], [105192386, 105192485], [105198215, 105198347], [105219067, 105219264], [105219799, 105219949], [105224615, 105224703], [105224887, 105224985], [105225080, 105225192], [105231960, 105232048], [105232291, 105232360], [105232859, 105233194], [105239378, 105239529], [105243453, 105243560], [105244529, 105244631], [105244803, 105244900], [105259185, 105259268], [105291097, 105291173], [105297016, 105297121], [105298781, 105298871], [105300191, 105300246], [105307441, 105307517]]
Promoter
Chrom Start End Description
chr6 105232902 105232908 CAGE_peak_8_at_HACE1_5end
chr6 105307417 105307424 CAGE_peak_13_at_HACE1_5end
chr6 105307638 105307649 CAGE_peak_3_at_HACE1_5end
chr6 105307711 105307800 CAGE_peak_1_at_HACE1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I104524 104524969 104525038 0.24 [{'connected_gene': 'HACE1', 'score': 5.67}, {'connected_gene': 'LIN28B', 'score': 1.6}, {'connected_gene': 'LOC105377918', 'score': 0.77}, {'connected_gene': 'GC06P104436', 'score': 0.17}]
chr6 GH06I104907 104907299 104909323 0.46 [{'connected_gene': 'HACE1', 'score': 7.93}, {'connected_gene': 'GC06M104892', 'score': 0.44}, {'connected_gene': 'LIN28B', 'score': 0.31}, {'connected_gene': 'LIN28B-AS1', 'score': 0.29}]
chr6 GH06I104565 104565108 104565471 0.22 [{'connected_gene': 'HACE1', 'score': 5.04}, {'connected_gene': 'LIN28B', 'score': 1.23}, {'connected_gene': 'GC06P104562', 'score': 0.77}, {'connected_gene': 'GC06P104610', 'score': 0.25}]
chr6 GH06I104640 104640840 104640982 0.22 [{'connected_gene': 'HACE1', 'score': 7.55}, {'connected_gene': 'LIN28B', 'score': 1.9}, {'connected_gene': 'GC06P104610', 'score': 0.29}, {'connected_gene': 'GC06M104657', 'score': 0.29}]
chr6 GH06I104630 104630220 104630547 0.22 [{'connected_gene': 'HACE1', 'score': 3.8}, {'connected_gene': 'LIN28B', 'score': 3.21}, {'connected_gene': 'GC06P104610', 'score': 0.37}, {'connected_gene': 'GC06M104657', 'score': 0.26}]
chr6 GH06I104702 104702953 104706688 0.95 [{'connected_gene': 'HACE1', 'score': 6.73}, {'connected_gene': 'ENSG00000218173', 'score': 0.37}, {'connected_gene': 'RNU6-897P', 'score': 0.21}]
chr6 GH06I104711 104711400 104711635 1.08 [{'connected_gene': 'HACE1', 'score': 4.83}, {'connected_gene': 'ENSG00000218173', 'score': 0.34}, {'connected_gene': 'RNU6-897P', 'score': 0.22}]
chr6 GH06I104710 104710686 104710815 0.49 [{'connected_gene': 'HACE1', 'score': 10.83}, {'connected_gene': 'ENSG00000218173', 'score': 0.34}, {'connected_gene': 'RNU6-897P', 'score': 0.22}]
chr6 GH06I104858 104858568 104860535 2.02 [{'connected_gene': 'HACE1', 'score': 575.69}, {'connected_gene': 'LOC100422315', 'score': 550.77}, {'connected_gene': 'ENSG00000227535', 'score': 0.39}]
chr6 GH06I104968 104968999 104970138 0.74 [{'connected_gene': 'HACE1', 'score': 4.98}, {'connected_gene': 'LIN28B-AS1', 'score': 0.31}, {'connected_gene': 'LIN28B', 'score': 0.29}, {'connected_gene': 'RNU6-1106P', 'score': 0.18}, {'connected_gene': 'GC06M105046', 'score': 0.18}]
chr6 GH06I104603 104603228 104603473 0.53 [{'connected_gene': 'HACE1', 'score': 1.43}, {'connected_gene': 'GC06P104610', 'score': 0.44}, {'connected_gene': 'GC06P104562', 'score': 0.26}]
chr6 GH06I104619 104619855 104624506 0.46 [{'connected_gene': 'HACE1', 'score': 15.6}, {'connected_gene': 'GC06P104610', 'score': 0.39}, {'connected_gene': 'GC06M104657', 'score': 0.23}]
chr6 GH06I105092 105092403 105092416 0.24 [{'connected_gene': 'PREP', 'score': 11.23}, {'connected_gene': 'POPDC3', 'score': 11.03}, {'connected_gene': 'HACE1', 'score': 1.5}, {'connected_gene': 'LIN28B', 'score': 1.35}, {'connected_gene': 'GC06P105082', 'score': 0.44}, {'connected_gene': 'BVES-AS1', 'score': 0.26}]
chr6 GH06I104995 104995440 104995502 0.22 [{'connected_gene': 'LIN28B', 'score': 4.93}, {'connected_gene': 'HACE1', 'score': 2.79}, {'connected_gene': 'RNU6-1106P', 'score': 0.23}, {'connected_gene': 'GC06M105046', 'score': 0.23}, {'connected_gene': 'LIN28B-AS1', 'score': 0.23}]
chr6 GH06I104612 104612941 104614390 0.6 [{'connected_gene': 'LIN28B', 'score': 2.84}, {'connected_gene': 'HACE1', 'score': 2.44}, {'connected_gene': 'GC06P104610', 'score': 0.77}, {'connected_gene': 'GC06M104657', 'score': 0.22}]
chr6 GH06I104951 104951660 104960177 2.76 [{'connected_gene': 'LIN28B', 'score': 556.73}, {'connected_gene': 'LIN28B-AS1', 'score': 6.55}, {'connected_gene': 'HACE1', 'score': 4.98}, {'connected_gene': 'RNU6-1106P', 'score': 0.17}, {'connected_gene': 'GC06M105046', 'score': 0.17}]
chr6 GH06I104689 104689532 104690260 0.31 [{'connected_gene': 'RNU6-897P', 'score': 11.27}, {'connected_gene': 'ENSG00000218173', 'score': 0.77}, {'connected_gene': 'HACE1', 'score': 0.09}]
chr6 GH06I104699 104699453 104701316 0.2 [{'connected_gene': 'RNU6-897P', 'score': 12.24}, {'connected_gene': 'ENSG00000218173', 'score': 0.39}, {'connected_gene': 'HACE1', 'score': 0.1}]
chr6 GH06I104789 104789722 104790298 0.83 [{'connected_gene': 'RNU6-897P', 'score': 0.34}, {'connected_gene': 'ENSG00000227535', 'score': 0.22}, {'connected_gene': 'HACE1', 'score': 0.2}]
chr6 GH06I104940 104940015 104942149 1.95 [{'connected_gene': 'LIN28B-AS1', 'score': 556.99}, {'connected_gene': 'HACE1', 'score': 5.51}, {'connected_gene': 'LIN28B', 'score': 0.77}]
chr6 GH06I104610 104610448 104610780 0.22 [{'connected_gene': 'GC06P104610', 'score': 550.77}, {'connected_gene': 'HACE1', 'score': 2.54}, {'connected_gene': 'LIN28B', 'score': 1.82}, {'connected_gene': 'GC06M104657', 'score': 0.21}]
chr6 GH06I104683 104683166 104683315 0.78 [{'connected_gene': 'ENSG00000218173', 'score': 0.77}, {'connected_gene': 'GC06M104657', 'score': 0.44}, {'connected_gene': 'HACE1', 'score': 0.1}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.