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
ENST00000467460 [[179512745, 179519820], [179525461, 179525619], [179526059, 179526225], [179527258, 179527456], [179529588, 179529659], [179533648, 179533792], [179537647, 179537764], [179576849, 179576945], [179592114, 179592211], [179593141, 179593265], [179597716, 179597911], [179605460, 179605572], [179615929, 179616034], [179689381, 179689453], [179754366, 179754718]] [[179519615, 179519820], [179525461, 179525619], [179526059, 179526225], [179527258, 179527456], [179529588, 179529659], [179533648, 179533792], [179537647, 179537764], [179576849, 179576945], [179592114, 179592211], [179593141, 179593265], [179597716, 179597911], [179605460, 179605572], [179615929, 179616034], [179689381, 179689453], [179754366, 179754387]]
ENST00000263962 [[179518843, 179519820], [179525461, 179525619], [179526059, 179526225], [179527258, 179527456], [179529588, 179529659], [179533648, 179533792], [179537647, 179537764], [179576849, 179576945], [179592114, 179592211], [179593141, 179593265], [179597716, 179597911], [179605460, 179605572], [179615929, 179616034], [179618457, 179618523], [179754366, 179754558]] [[179519615, 179519820], [179525461, 179525619], [179526059, 179526225], [179527258, 179527456], [179529588, 179529659], [179533648, 179533792], [179537647, 179537764], [179576849, 179576945], [179592114, 179592211], [179593141, 179593265], [179597716, 179597911], [179605460, 179605572], [179615929, 179616034], [179618457, 179618523], [179754366, 179754387]]
ENST00000392649 [[179518853, 179519820], [179525461, 179525619], [179526059, 179526225], [179527258, 179527456], [179529588, 179529659], [179533648, 179533792], [179537647, 179537764], [179576849, 179576945], [179592114, 179592211], [179593141, 179593265], [179605460, 179605572], [179615929, 179615998]] [[179519615, 179519820], [179525461, 179525619], [179526059, 179526225], [179527258, 179527456], [179529588, 179529659], [179533648, 179533792], [179537647, 179537764], [179576849, 179576945], [179592114, 179592211], [179593141, 179593265], [179605460, 179605572], [179615929, 179615998]]
ENST00000485199 [[179518853, 179519820], [179525461, 179525619], [179526059, 179526225], [179527258, 179527456], [179529588, 179529659], [179533648, 179533792], [179537647, 179537764], [179576849, 179576945], [179592114, 179592211], [179593141, 179593265], [179597716, 179597911], [179605460, 179605572], [179689381, 179689453], [179754366, 179754841]] [[179519615, 179519820], [179525461, 179525619], [179526059, 179526225], [179527258, 179527456], [179529588, 179529659], [179533648, 179533792], [179537647, 179537764], [179576849, 179576945], [179592114, 179592211], [179593141, 179593265], [179597716, 179597911], [179605460, 179605572], [179689381, 179689453], [179754366, 179754387]]
ENST00000468741 [[179519305, 179519820], [179525461, 179525619], [179526059, 179526225], [179527258, 179527456], [179529588, 179529659], [179533648, 179533792], [179537647, 179537764], [179576849, 179576945], [179592114, 179592211], [179593141, 179593265], [179597716, 179597911], [179605460, 179605572], [179689381, 179689453], [179691803, 179692047]] [[179519615, 179519820], [179525461, 179525619], [179526059, 179526225], [179527258, 179527456], [179529588, 179529659], [179533648, 179533792], [179537647, 179537764], [179576849, 179576945], [179592114, 179592211], [179593141, 179593194]]
ENST00000476138 [[179519310, 179519820], [179525461, 179525619], [179526059, 179526225], [179527258, 179527456], [179529588, 179529659], [179533648, 179533792], [179537647, 179537764], [179576849, 179576945], [179592114, 179592211], [179593141, 179593265], [179597716, 179597911], [179605460, 179605572], [179615929, 179616034], [179689381, 179689453], [179691803, 179691999]] [[179519615, 179519820], [179525461, 179525619], [179526059, 179526225], [179527258, 179527456], [179529588, 179529659], [179533648, 179533792], [179537647, 179537764], [179576849, 179576945], [179592114, 179592211], [179593141, 179593265], [179597716, 179597911], [179605460, 179605572], [179615929, 179615998]]
ENST00000467440 [[179519436, 179519820], [179525461, 179525619], [179526059, 179526225], [179527258, 179527456], [179529588, 179529659], [179533648, 179533792], [179537647, 179537764], [179576849, 179576945], [179592114, 179592211], [179593141, 179593265], [179605460, 179605572], [179605907, 179605979]] None
ENST00000472994 [[179519444, 179519820], [179525461, 179525619], [179526059, 179526225], [179527258, 179527456], [179529588, 179529659], [179533648, 179533792], [179537647, 179537764], [179576849, 179576945], [179592114, 179592211], [179593141, 179593265], [179597716, 179597911], [179605460, 179605572], [179754366, 179754747]] [[179519615, 179519820], [179525461, 179525619], [179526059, 179526225], [179527258, 179527456], [179529588, 179529659], [179533648, 179533792], [179537647, 179537764], [179576849, 179576945], [179592114, 179592211], [179593141, 179593265], [179597716, 179597911], [179605460, 179605572], [179754366, 179754387]]
ENST00000464614 [[179519526, 179519820], [179525461, 179525619], [179526059, 179526225], [179527258, 179527456], [179529588, 179529659], [179533648, 179533792], [179537647, 179537764], [179576849, 179576945], [179592114, 179592211], [179593141, 179593265], [179605460, 179605572], [179615929, 179616034], [179689381, 179689453], [179691803, 179691866]] [[179519615, 179519820], [179525461, 179525619], [179526059, 179526225], [179527258, 179527456], [179529588, 179529659], [179533648, 179533792], [179537647, 179537764], [179576849, 179576945], [179592114, 179592211], [179593141, 179593265], [179605460, 179605572], [179615929, 179615998]]
ENST00000465751 [[179519604, 179519820], [179525461, 179525619], [179526059, 179526225], [179527258, 179527456], [179529588, 179529659], [179533648, 179533792], [179537647, 179537764], [179576849, 179576945], [179592114, 179592211], [179593141, 179593265], [179597716, 179597911], [179605460, 179605572], [179615929, 179616034], [179754366, 179754714]] [[179519615, 179519820], [179525461, 179525619], [179526059, 179526225], [179527258, 179527456], [179529588, 179529659], [179533648, 179533792], [179537647, 179537764], [179576849, 179576945], [179592114, 179592211], [179593141, 179593265], [179597716, 179597911], [179605460, 179605572], [179615929, 179616034], [179754366, 179754387]]
ENST00000474909 [[179618460, 179618523], [179689381, 179689448], [179754366, 179754823]] None
ENST00000477829 [[179527360, 179527456], [179529588, 179529659], [179533648, 179533792], [179537647, 179537879]] None
ENST00000461537 [[179527381, 179527456], [179529588, 179529659], [179533648, 179533792], [179537647, 179537764], [179538205, 179538343]] None
ENST00000496721 [[179576884, 179576945], [179592114, 179592211], [179593141, 179593265], [179605460, 179605572], [179613884, 179613962]] [[179576884, 179576945], [179592114, 179592211], [179593141, 179593194]]
ENST00000491640 [[179592160, 179592211], [179593141, 179593265], [179597716, 179597911], [179605460, 179605572], [179613387, 179613468]] [[179592160, 179592211], [179593141, 179593194]]
ENST00000469198 [[179593154, 179593265], [179597716, 179597911], [179605460, 179605572], [179689381, 179689453], [179690946, 179691040]] [[179593154, 179593265], [179597716, 179597911], [179605460, 179605572], [179689381, 179689453]]
ENST00000463761 [[179593231, 179593265], [179597716, 179597911], [179605460, 179605572], [179615929, 179616034], [179689381, 179689453], [179690946, 179691106], [179691803, 179691999]] [[179593231, 179593265], [179597716, 179597911], [179605460, 179605572], [179615929, 179616034], [179689381, 179689453], [179690946, 179691039]]
ENST00000487198 [[179597753, 179597911], [179605460, 179605572], [179689381, 179689448], [179690946, 179691106], [179691803, 179691907]] None
NM_001256754 [[179512745, 179519820], [179525461, 179525619], [179526059, 179526225], [179527258, 179527456], [179529588, 179529659], [179533648, 179533792], [179537647, 179537764], [179576849, 179576945], [179592114, 179592211], [179593141, 179593265], [179597716, 179597911], [179605460, 179605572], [179615929, 179616034], [179689381, 179689453], [179691803, 179692008]] [[179519615, 179519820], [179525461, 179525619], [179526059, 179526225], [179527258, 179527456], [179529588, 179529659], [179533648, 179533792], [179537647, 179537764], [179576849, 179576945], [179592114, 179592211], [179593141, 179593265], [179597716, 179597911], [179605460, 179605572], [179615929, 179615998]]
NM_001256755 [[179512745, 179519820], [179525461, 179525619], [179526059, 179526225], [179527258, 179527456], [179529588, 179529659], [179533648, 179533792], [179537647, 179537764], [179576849, 179576945], [179592114, 179592211], [179593141, 179593265], [179605460, 179605572], [179615929, 179616034], [179689381, 179689453], [179691803, 179692008]] [[179519615, 179519820], [179525461, 179525619], [179526059, 179526225], [179527258, 179527456], [179529588, 179529659], [179533648, 179533792], [179537647, 179537764], [179576849, 179576945], [179592114, 179592211], [179593141, 179593265], [179605460, 179605572], [179615929, 179615998]]
NM_001256756 [[179512745, 179519820], [179525461, 179525619], [179526059, 179526225], [179527258, 179527456], [179529588, 179529659], [179533648, 179533792], [179537647, 179537764], [179576849, 179576945], [179592114, 179592211], [179593141, 179593265], [179597716, 179597911], [179605460, 179605572], [179689381, 179689453], [179691803, 179692008]] [[179519615, 179519820], [179525461, 179525619], [179526059, 179526225], [179527258, 179527456], [179529588, 179529659], [179533648, 179533792], [179537647, 179537764], [179576849, 179576945], [179592114, 179592211], [179593141, 179593194]]
NM_016559 [[179512745, 179519820], [179525461, 179525619], [179526059, 179526225], [179527258, 179527456], [179529588, 179529659], [179533648, 179533792], [179537647, 179537764], [179576849, 179576945], [179592114, 179592211], [179593141, 179593265], [179597716, 179597911], [179605460, 179605572], [179615929, 179616034], [179689381, 179689453], [179754366, 179754841]] [[179519615, 179519820], [179525461, 179525619], [179526059, 179526225], [179527258, 179527456], [179529588, 179529659], [179533648, 179533792], [179537647, 179537764], [179576849, 179576945], [179592114, 179592211], [179593141, 179593265], [179597716, 179597911], [179605460, 179605572], [179615929, 179616034], [179689381, 179689453], [179754366, 179754387]]
NM_001256752 [[179512745, 179519820], [179525461, 179525619], [179526059, 179526225], [179527258, 179527456], [179529588, 179529659], [179533648, 179533792], [179537647, 179537764], [179576849, 179576945], [179592114, 179592211], [179593141, 179593265], [179597716, 179597911], [179605460, 179605572], [179689381, 179689453], [179754366, 179754841]] [[179519615, 179519820], [179525461, 179525619], [179526059, 179526225], [179527258, 179527456], [179529588, 179529659], [179533648, 179533792], [179537647, 179537764], [179576849, 179576945], [179592114, 179592211], [179593141, 179593265], [179597716, 179597911], [179605460, 179605572], [179689381, 179689453], [179754366, 179754387]]
NM_001256750 [[179512745, 179519820], [179525461, 179525619], [179526059, 179526225], [179527258, 179527456], [179529588, 179529659], [179533648, 179533792], [179537647, 179537764], [179576849, 179576945], [179592114, 179592211], [179593141, 179593265], [179597716, 179597911], [179605460, 179605572], [179615929, 179616034], [179618457, 179618523], [179754366, 179754841]] [[179519615, 179519820], [179525461, 179525619], [179526059, 179526225], [179527258, 179527456], [179529588, 179529659], [179533648, 179533792], [179537647, 179537764], [179576849, 179576945], [179592114, 179592211], [179593141, 179593265], [179597716, 179597911], [179605460, 179605572], [179615929, 179616034], [179618457, 179618523], [179754366, 179754387]]
NM_001256751 [[179512745, 179519820], [179525461, 179525619], [179526059, 179526225], [179527258, 179527456], [179529588, 179529659], [179533648, 179533792], [179537647, 179537764], [179576849, 179576945], [179592114, 179592211], [179593141, 179593265], [179597716, 179597911], [179605460, 179605572], [179615929, 179616034], [179754366, 179754841]] [[179519615, 179519820], [179525461, 179525619], [179526059, 179526225], [179527258, 179527456], [179529588, 179529659], [179533648, 179533792], [179537647, 179537764], [179576849, 179576945], [179592114, 179592211], [179593141, 179593265], [179597716, 179597911], [179605460, 179605572], [179615929, 179616034], [179754366, 179754387]]
NM_001256753 [[179512745, 179519820], [179525461, 179525619], [179526059, 179526225], [179527258, 179527456], [179529588, 179529659], [179533648, 179533792], [179537647, 179537764], [179576849, 179576945], [179592114, 179592211], [179593141, 179593265], [179597716, 179597911], [179605460, 179605572], [179754366, 179754841]] [[179519615, 179519820], [179525461, 179525619], [179526059, 179526225], [179527258, 179527456], [179529588, 179529659], [179533648, 179533792], [179537647, 179537764], [179576849, 179576945], [179592114, 179592211], [179593141, 179593265], [179597716, 179597911], [179605460, 179605572], [179754366, 179754387]]
Promoter
Chrom Start End Description
chr3 179691982 179692019 CAGE_peak_1_at_PEX5L_5end
chr3 179692042 179692053 CAGE_peak_8_at_PEX5L_5end
chr3 179754432 179754435 CAGE_peak_10_at_PEX5L_5end
chr3 179754556 179754577 CAGE_peak_7_at_PEX5L_5end
chr3 179754677 179754701 CAGE_peak_5_at_PEX5L_5end
chr3 179754706 179754732 CAGE_peak_4_at_PEX5L_5end
chr3 179754733 179754773 CAGE_peak_3_at_PEX5L_5end
chr3 179754789 179754804 CAGE_peak_6_at_PEX5L_5end
chr3 179754806 179754872 CAGE_peak_2_at_PEX5L_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I179928 179927651 179931613 0.56 [{'connected_gene': 'USP13', 'score': 9.77}, {'connected_gene': 'PEX5L', 'score': 5.37}, {'connected_gene': 'PEX5L-AS2', 'score': 0.29}, {'connected_gene': 'GC03M180001', 'score': 0.19}]
chr3 GH03I179964 179964347 179968274 0.49 [{'connected_gene': 'USP13', 'score': 9.64}, {'connected_gene': 'PEX5L-AS1', 'score': 9.6}, {'connected_gene': 'GC03M180001', 'score': 0.29}, {'connected_gene': 'PEX5L-AS2', 'score': 0.2}, {'connected_gene': 'PEX5L', 'score': 0.19}]
chr3 GH03I180341 180341671 180341829 0.22 [{'connected_gene': 'PEX5L', 'score': 3.57}, {'connected_gene': 'LOC131054', 'score': 0.37}, {'connected_gene': 'LINC02053', 'score': 0.19}]
chr3 GH03I179932 179932710 179935527 0.38 [{'connected_gene': 'PEX5L', 'score': 5.38}, {'connected_gene': 'PEX5L-AS2', 'score': 0.28}, {'connected_gene': 'GC03M180001', 'score': 0.2}]
chr3 GH03I179990 179990846 179992375 0.38 [{'connected_gene': 'PEX5L', 'score': 10.33}, {'connected_gene': 'GC03M180001', 'score': 0.44}, {'connected_gene': 'PEX5L-AS2', 'score': 0.16}]
chr3 GH03I179969 179969442 179969791 1.07 [{'connected_gene': 'PEX5L', 'score': 1.43}, {'connected_gene': 'GC03M180001', 'score': 0.29}, {'connected_gene': 'PEX5L-AS2', 'score': 0.19}]
chr3 GH03I179983 179983263 179986236 0.31 [{'connected_gene': 'PEX5L', 'score': 10.36}, {'connected_gene': 'GC03M180001', 'score': 0.37}, {'connected_gene': 'PEX5L-AS2', 'score': 0.17}]
chr3 GH03I179920 179920849 179922833 0.54 [{'connected_gene': 'PEX5L', 'score': 4.54}, {'connected_gene': 'PEX5L-AS2', 'score': 0.34}, {'connected_gene': 'GC03M180001', 'score': 0.18}]
chr3 GH03I179947 179947680 179952075 0.38 [{'connected_gene': 'PEX5L', 'score': 14.71}, {'connected_gene': 'PEX5L-AS2', 'score': 0.23}, {'connected_gene': 'GC03M180001', 'score': 0.23}]
chr3 GH03I179959 179959664 179961145 0.46 [{'connected_gene': 'PEX5L', 'score': 14.1}, {'connected_gene': 'PEX5L-AS1', 'score': 9.88}, {'connected_gene': 'GC03M180001', 'score': 0.26}, {'connected_gene': 'PEX5L-AS2', 'score': 0.21}]
chr3 GH03I179974 179974205 179974264 0.93 [{'connected_gene': 'PEX5L', 'score': 550.21}, {'connected_gene': 'PEX5L-AS1', 'score': 9.51}, {'connected_gene': 'GC03M180001', 'score': 0.31}, {'connected_gene': 'PEX5L-AS2', 'score': 0.18}]
chr3 GH03I179885 179885853 179886176 0.33 [{'connected_gene': 'PEX5L', 'score': 1.32}, {'connected_gene': 'PEX5L-AS1', 'score': 0.39}, {'connected_gene': 'PEX5L-AS2', 'score': 0.39}]
chr3 GH03I179882 179882221 179883551 0.67 [{'connected_gene': 'PEX5L', 'score': 6.81}, {'connected_gene': 'PEX5L-AS1', 'score': 0.44}, {'connected_gene': 'PEX5L-AS2', 'score': 0.37}]
chr3 GH03I180432 180432502 180434694 0.74 [{'connected_gene': 'PEX5L', 'score': 4.85}, {'connected_gene': 'LINC02053', 'score': 0.37}, {'connected_gene': 'GC03P180543', 'score': 0.14}]
chr3 GH03I180036 180036300 180037401 1.72 [{'connected_gene': 'PEX5L', 'score': 550.77}, {'connected_gene': 'GC03P180037', 'score': 550.77}, {'connected_gene': 'GC03M180001', 'score': 0.28}]
chr3 GH03I179927 179927047 179927647 0.2 [{'connected_gene': 'PEX5L-AS2', 'score': 0.31}, {'connected_gene': 'GC03M180001', 'score': 0.19}, {'connected_gene': 'PEX5L', 'score': 0.14}]
chr3 GH03I179942 179942168 179942800 1.06 [{'connected_gene': 'PEX5L-AS1', 'score': 10.22}, {'connected_gene': 'PEX5L', 'score': 2.52}, {'connected_gene': 'PEX5L-AS2', 'score': 0.26}, {'connected_gene': 'GC03M180001', 'score': 0.22}]
chr3 GH03I179961 179961401 179961600 0.77 [{'connected_gene': 'PEX5L-AS1', 'score': 9.88}, {'connected_gene': 'PEX5L', 'score': 9.83}, {'connected_gene': 'GC03M180001', 'score': 0.28}, {'connected_gene': 'PEX5L-AS2', 'score': 0.21}]
chr3 GH03I179971 179971144 179971678 0.31 [{'connected_gene': 'PEX5L-AS1', 'score': 9.51}, {'connected_gene': 'GC03M180001', 'score': 0.31}, {'connected_gene': 'PEX5L', 'score': 0.2}, {'connected_gene': 'PEX5L-AS2', 'score': 0.19}]
chr3 GH03I179955 179955878 179957978 1.12 [{'connected_gene': 'PEX5L-AS1', 'score': 9.89}, {'connected_gene': 'PEX5L', 'score': 9.82}, {'connected_gene': 'GC03M180001', 'score': 0.26}, {'connected_gene': 'PEX5L-AS2', 'score': 0.22}]
chr3 GH03I179972 179972787 179973523 0.2 [{'connected_gene': 'PEX5L-AS1', 'score': 9.51}, {'connected_gene': 'GC03M180001', 'score': 0.31}, {'connected_gene': 'PEX5L', 'score': 0.21}, {'connected_gene': 'PEX5L-AS2', 'score': 0.19}]
chr3 GH03I179970 179970164 179971090 0.2 [{'connected_gene': 'PEX5L-AS1', 'score': 9.51}, {'connected_gene': 'GC03M180001', 'score': 0.29}, {'connected_gene': 'PEX5L', 'score': 0.2}, {'connected_gene': 'PEX5L-AS2', 'score': 0.19}]
chr3 GH03I179960 179959045 179959434 0.2 [{'connected_gene': 'PEX5L-AS1', 'score': 9.89}, {'connected_gene': 'PEX5L', 'score': 9.83}, {'connected_gene': 'GC03M180001', 'score': 0.26}, {'connected_gene': 'PEX5L-AS2', 'score': 0.21}]
chr3 GH03I179810 179810679 179812173 0.83 [{'connected_gene': 'PEX5L-AS1', 'score': 10.42}, {'connected_gene': 'ENSG00000270178', 'score': 6.24}, {'connected_gene': 'PEX5L', 'score': 0.07}]
chr3 GH03I179853 179853151 179853738 0.58 [{'connected_gene': 'PEX5L-AS1', 'score': 12.3}, {'connected_gene': 'ENSG00000270178', 'score': 0.25}, {'connected_gene': 'PEX5L', 'score': 0.09}]
chr3 GH03I179852 179852200 179852608 0.8 [{'connected_gene': 'PEX5L-AS1', 'score': 12.3}, {'connected_gene': 'ENSG00000270178', 'score': 0.25}, {'connected_gene': 'PEX5L', 'score': 0.09}]
chr3 GH03I179832 179832335 179832488 0.49 [{'connected_gene': 'PEX5L-AS1', 'score': 10.37}, {'connected_gene': 'PEX5L', 'score': 2.76}, {'connected_gene': 'ENSG00000270178', 'score': 0.31}]
chr3 GH03I179944 179944024 179946766 0.31 [{'connected_gene': 'PEX5L-AS1', 'score': 10.21}, {'connected_gene': 'PEX5L-AS2', 'score': 0.25}, {'connected_gene': 'GC03M180001', 'score': 0.22}, {'connected_gene': 'PEX5L', 'score': 0.16}]
chr3 GH03I179943 179943131 179943662 0.38 [{'connected_gene': 'PEX5L-AS1', 'score': 10.22}, {'connected_gene': 'PEX5L-AS2', 'score': 0.25}, {'connected_gene': 'GC03M180001', 'score': 0.22}, {'connected_gene': 'PEX5L', 'score': 0.16}]
chr3 GH03I179938 179938069 179940770 0.2 [{'connected_gene': 'PEX5L-AS1', 'score': 10.34}, {'connected_gene': 'PEX5L-AS2', 'score': 0.26}, {'connected_gene': 'GC03M180001', 'score': 0.21}, {'connected_gene': 'PEX5L', 'score': 0.15}]
chr3 GH03I179978 179978511 179983139 0.31 [{'connected_gene': 'GC03M180001', 'score': 0.34}, {'connected_gene': 'PEX5L', 'score': 0.22}, {'connected_gene': 'PEX5L-AS2', 'score': 0.18}]
chr3 GH03I179975 179975499 179978488 0.2 [{'connected_gene': 'GC03M180001', 'score': 0.34}, {'connected_gene': 'PEX5L', 'score': 0.21}, {'connected_gene': 'PEX5L-AS2', 'score': 0.18}]
chr3 GH03I179954 179954333 179954482 0.51 [{'connected_gene': 'GC03M180001', 'score': 0.25}, {'connected_gene': 'PEX5L-AS2', 'score': 0.22}, {'connected_gene': 'PEX5L', 'score': 0.18}]

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