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
ENST00000579708 [[61904511, 61904566], [61904777, 61904883], [61907492, 61907549], [61907630, 61907861], [61908168, 61908277]] [[61904850, 61904883], [61907492, 61907549], [61907630, 61907861], [61908168, 61908277]]
ENST00000310144 [[61904542, 61904874], [61905497, 61905569], [61906853, 61906923], [61907211, 61907309], [61907492, 61907549], [61907630, 61907861], [61908168, 61908295], [61908395, 61908586], [61908686, 61908785], [61908865, 61908976], [61909083, 61909170], [61909275, 61909379]] [[61904850, 61904874], [61905497, 61905569], [61906853, 61906923], [61907211, 61907309], [61907492, 61907549], [61907630, 61907861], [61908168, 61908295], [61908395, 61908586], [61908686, 61908785], [61908865, 61908976], [61909083, 61909170], [61909275, 61909329]]
ENST00000582420 [[61904792, 61904883], [61904979, 61905282]] None
ENST00000581842 [[61904805, 61904874], [61905188, 61905283], [61905497, 61905569], [61906853, 61906923], [61907211, 61907309], [61907492, 61907549], [61907630, 61907861], [61908168, 61908285]] [[61905497, 61905569], [61906853, 61906923], [61907211, 61907309], [61907492, 61907549], [61907630, 61907861], [61908168, 61908285]]
ENST00000582130 [[61904812, 61904874], [61905497, 61905569], [61906853, 61906923], [61907211, 61907309], [61907630, 61907861], [61908168, 61908295], [61908395, 61908563]] [[61904850, 61904874], [61905497, 61905569], [61906853, 61906923], [61907211, 61907309], [61907630, 61907861], [61908168, 61908295], [61908395, 61908563]]
ENST00000584320 [[61904814, 61904874], [61905478, 61905569], [61906853, 61906923], [61907211, 61907309], [61907492, 61907549], [61907630, 61907861], [61908168, 61908295], [61908395, 61908465]] [[61905497, 61905569], [61906853, 61906923], [61907211, 61907309], [61907492, 61907549], [61907630, 61907861], [61908168, 61908295], [61908395, 61908465]]
ENST00000583283 [[61904819, 61905283], [61905478, 61905569], [61906853, 61906900]] None
ENST00000581764 [[61904819, 61904972], [61906217, 61907861], [61908168, 61908478]] None
ENST00000585123 [[61904819, 61904874], [61905210, 61905283], [61905497, 61905569], [61906853, 61906923], [61907211, 61907309], [61907492, 61907549], [61907630, 61907861], [61908168, 61908295], [61908395, 61908511]] [[61905497, 61905569], [61906853, 61906923], [61907211, 61907309], [61907492, 61907549], [61907630, 61907861], [61908168, 61908295], [61908395, 61908511]]
ENST00000579147 [[61904819, 61904874], [61905497, 61906923], [61907211, 61907309], [61907492, 61907549], [61907630, 61907861], [61908168, 61908295], [61908395, 61908586], [61908686, 61908785], [61908865, 61908976], [61909083, 61909170], [61909275, 61909379]] None
ENST00000580864 [[61904819, 61904874], [61905033, 61905283], [61905497, 61905569], [61906853, 61906923], [61907211, 61907309], [61907492, 61907549], [61907630, 61907861], [61908168, 61908295], [61908395, 61908586], [61908686, 61908785], [61908865, 61908976], [61909083, 61909170], [61909275, 61909379]] [[61905497, 61905569], [61906853, 61906923], [61907211, 61907309], [61907492, 61907549], [61907630, 61907861], [61908168, 61908295], [61908395, 61908586], [61908686, 61908785], [61908865, 61908976], [61909083, 61909170], [61909275, 61909329]]
ENST00000584536 [[61904831, 61904874], [61905497, 61905569], [61906853, 61906923], [61907211, 61907309], [61907630, 61907861], [61908395, 61908586], [61908686, 61908785]] [[61904850, 61904874], [61905497, 61905569], [61906853, 61906923], [61907211, 61907309], [61907630, 61907861], [61908395, 61908410]]
ENST00000585242 [[61904838, 61904874], [61905497, 61905569], [61907211, 61907309], [61907492, 61907549], [61907630, 61907861], [61908168, 61908295], [61908395, 61908586], [61908686, 61908785], [61908865, 61908976], [61909083, 61909170], [61909275, 61909344]] [[61904850, 61904874], [61905497, 61905569], [61907211, 61907274]]
ENST00000578570 [[61904849, 61905283], [61905497, 61905569], [61906853, 61906923], [61907211, 61907309], [61907492, 61907549], [61907630, 61907861], [61908168, 61908295], [61908395, 61908586], [61908686, 61908785], [61908865, 61908976], [61909083, 61909170], [61909275, 61909378]] None
ENST00000580265 [[61905062, 61905283], [61905497, 61905922]] None
ENST00000375812 [[61905080, 61905283], [61905497, 61905569], [61906853, 61906923], [61907211, 61907309], [61907492, 61907549], [61907630, 61907861], [61908168, 61908295], [61908395, 61908586], [61908686, 61908785], [61908865, 61908976], [61909083, 61909170], [61909275, 61909378]] [[61905497, 61905569], [61906853, 61906923], [61907211, 61907309], [61907492, 61907549], [61907630, 61907861], [61908168, 61908295], [61908395, 61908586], [61908686, 61908785], [61908865, 61908976], [61909083, 61909170], [61909275, 61909329]]
ENST00000581882 [[61905237, 61905569], [61906853, 61906923], [61907211, 61907309], [61907492, 61907549], [61907630, 61907861], [61908168, 61908295], [61908395, 61908586], [61908686, 61908785], [61908865, 61908976], [61909083, 61909170], [61909275, 61909346]] [[61905497, 61905569], [61906853, 61906923], [61907211, 61907309], [61907492, 61907549], [61907630, 61907861], [61908168, 61908295], [61908395, 61908586], [61908686, 61908785], [61908865, 61908976], [61909083, 61909170], [61909275, 61909329]]
ENST00000579031 [[61907424, 61907549], [61907630, 61907861], [61908168, 61908295], [61908395, 61908586], [61908686, 61908784]] None
ENST00000584880 [[61907745, 61907861], [61908168, 61908295], [61908379, 61908586], [61908686, 61908785], [61908865, 61908913]] [[61907745, 61907861], [61908168, 61908295], [61908379, 61908519]]
ENST00000580063 [[61908041, 61908295], [61908395, 61908586], [61908686, 61908785], [61908865, 61908883]] None
ENST00000584657 [[61908698, 61909170], [61909275, 61909379]] None
NM_002805 [[61904769, 61904874], [61905497, 61905569], [61906853, 61906923], [61907211, 61907309], [61907492, 61907549], [61907630, 61907861], [61908168, 61908295], [61908395, 61908586], [61908686, 61908785], [61908865, 61908976], [61909083, 61909170], [61909275, 61909387]] [[61904850, 61904874], [61905497, 61905569], [61906853, 61906923], [61907211, 61907309], [61907492, 61907549], [61907630, 61907861], [61908168, 61908295], [61908395, 61908586], [61908686, 61908785], [61908865, 61908976], [61909083, 61909170], [61909275, 61909329]]
NM_001199163 [[61905043, 61905283], [61905497, 61905569], [61906853, 61906923], [61907211, 61907309], [61907492, 61907549], [61907630, 61907861], [61908168, 61908295], [61908395, 61908586], [61908686, 61908785], [61908865, 61908976], [61909083, 61909170], [61909275, 61909387]] [[61905497, 61905569], [61906853, 61906923], [61907211, 61907309], [61907492, 61907549], [61907630, 61907861], [61908168, 61908295], [61908395, 61908586], [61908686, 61908785], [61908865, 61908976], [61909083, 61909170], [61909275, 61909329]]
Promoter
Chrom Start End Description
chr17 61904766 61904827 CAGE_peak_1_at_PSMC5_5end
chr17 61904831 61904842 CAGE_peak_3_at_PSMC5_5end
chr17 61905058 61905099 CAGE_peak_2_at_PSMC5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I063664 63664756 63666583 0.94 [{'connected_gene': 'LIMD2', 'score': 12.48}, {'connected_gene': 'TACO1', 'score': 11.06}, {'connected_gene': 'STRADA', 'score': 10.77}, {'connected_gene': 'ENSG00000125695', 'score': 10.75}, {'connected_gene': 'SMARCD2', 'score': 10.55}, {'connected_gene': 'PSMC5', 'score': 4.09}, {'connected_gene': 'LOC101927898', 'score': 0.31}, {'connected_gene': 'EEF1DP7', 'score': 0.31}, {'connected_gene': 'MAP3K3', 'score': 0.26}]
chr17 GH17I063694 63694182 63704360 2.15 [{'connected_gene': 'LOC729683', 'score': 550.77}, {'connected_gene': 'LIMD2', 'score': 550.77}, {'connected_gene': 'PIR54058', 'score': 550.77}, {'connected_gene': 'GC17M063698', 'score': 550.77}, {'connected_gene': 'GC17M063699', 'score': 550.77}, {'connected_gene': 'FTSJ3', 'score': 75.45}, {'connected_gene': 'CSH2', 'score': 16.69}, {'connected_gene': 'STRADA', 'score': 12.35}, {'connected_gene': 'ENSG00000125695', 'score': 12.32}, {'connected_gene': 'PSMC5', 'score': 11.01}, {'connected_gene': 'TCAM1P', 'score': 6.14}, {'connected_gene': 'MAP3K3', 'score': 0.18}]
chr17 GH17I063837 63837290 63844652 2.62 [{'connected_gene': 'SMARCD2', 'score': 577.36}, {'connected_gene': 'GC17P063839', 'score': 550.77}, {'connected_gene': 'FTSJ3', 'score': 118.43}, {'connected_gene': 'CEP95', 'score': 72.38}, {'connected_gene': 'POLG2', 'score': 70.79}, {'connected_gene': 'DDX42', 'score': 63.81}, {'connected_gene': 'ENSG00000265982', 'score': 54.5}, {'connected_gene': 'PLEKHM1P1', 'score': 42.42}, {'connected_gene': 'DDX5', 'score': 38.32}, {'connected_gene': 'DCAF7', 'score': 21.25}, {'connected_gene': 'CSH2', 'score': 19.49}, {'connected_gene': 'SMURF2', 'score': 19.22}, {'connected_gene': 'ENSG00000281311', 'score': 14.11}, {'connected_gene': 'ERN1', 'score': 11.38}, {'connected_gene': 'EEF1DP7', 'score': 10.14}, {'connected_gene': 'MAP3K3', 'score': 9.88}, {'connected_gene': 'PSMC5', 'score': 4.79}, {'connected_gene': 'GC17P063832', 'score': 0.44}]
chr17 GH17I063679 63679790 63680834 0.43 [{'connected_gene': 'SMARCD2', 'score': 28.07}, {'connected_gene': 'FTSJ3', 'score': 26.74}, {'connected_gene': 'DDX5', 'score': 17.03}, {'connected_gene': 'POLG2', 'score': 14.4}, {'connected_gene': 'ENSG00000281311', 'score': 14.1}, {'connected_gene': 'DDX42', 'score': 13.4}, {'connected_gene': 'CEP95', 'score': 13.1}, {'connected_gene': 'ERN1', 'score': 11.37}, {'connected_gene': 'PSMC5', 'score': 10.52}, {'connected_gene': 'TACO1', 'score': 10.44}, {'connected_gene': 'LOC101927898', 'score': 0.39}, {'connected_gene': 'EEF1DP7', 'score': 0.26}, {'connected_gene': 'MAP3K3', 'score': 0.22}]
chr17 GH17I063760 63760970 63762485 0.92 [{'connected_gene': 'PSMC5', 'score': 11.34}, {'connected_gene': 'FTSJ3', 'score': 11.34}, {'connected_gene': 'LIMD2', 'score': 11.18}, {'connected_gene': 'SMARCD2', 'score': 10.93}, {'connected_gene': 'DDX42', 'score': 10.13}, {'connected_gene': 'GC17P063754', 'score': 0.44}, {'connected_gene': 'CCDC47', 'score': 0.39}]
chr17 GH17I063791 63791881 63792747 0.31 [{'connected_gene': 'FTSJ3', 'score': 27.3}, {'connected_gene': 'PSMC5', 'score': 12.38}, {'connected_gene': 'ENSG00000125695', 'score': 12.04}, {'connected_gene': 'STRADA', 'score': 12.01}, {'connected_gene': 'PIR56411', 'score': 0.44}, {'connected_gene': 'DDX42', 'score': 0.37}]
chr17 GH17I063825 63825254 63828867 2.09 [{'connected_gene': 'FTSJ3', 'score': 628.84}, {'connected_gene': 'PSMC5', 'score': 555.17}, {'connected_gene': 'CEP95', 'score': 33.14}, {'connected_gene': 'DDX42', 'score': 25.71}, {'connected_gene': 'POLG2', 'score': 24.76}, {'connected_gene': 'SMARCD2', 'score': 17.95}, {'connected_gene': 'CSH2', 'score': 17.4}, {'connected_gene': 'DDX5', 'score': 17.03}, {'connected_gene': 'ENSG00000281311', 'score': 14.11}, {'connected_gene': 'ENSG00000265982', 'score': 12.59}, {'connected_gene': 'ERN1', 'score': 11.38}, {'connected_gene': 'PIR56411', 'score': 0.28}]
chr17 GH17I063704 63704861 63708618 0.58 [{'connected_gene': 'FTSJ3', 'score': 74.98}, {'connected_gene': 'CSH2', 'score': 18.1}, {'connected_gene': 'STRADA', 'score': 12.37}, {'connected_gene': 'ENSG00000125695', 'score': 12.34}, {'connected_gene': 'PSMC5', 'score': 11.01}, {'connected_gene': 'TACO1', 'score': 10.92}, {'connected_gene': 'LIMD2', 'score': 0.77}, {'connected_gene': 'PIR56154', 'score': 0.77}]
chr17 GH17I063816 63816008 63817443 0.54 [{'connected_gene': 'FTSJ3', 'score': 64.51}, {'connected_gene': 'CSH2', 'score': 18.48}, {'connected_gene': 'SMARCD2', 'score': 11.47}, {'connected_gene': 'PSMC5', 'score': 0.39}, {'connected_gene': 'PIR56411', 'score': 0.31}, {'connected_gene': 'DDX42', 'score': 0.26}]
chr17 GH17I063829 63829112 63829858 0.46 [{'connected_gene': 'FTSJ3', 'score': 614.89}, {'connected_gene': 'CSH2', 'score': 17.42}, {'connected_gene': 'PSMC5', 'score': 0.77}]
chr17 GH17I063982 63982935 63986237 1.29 [{'connected_gene': 'FTSJ3', 'score': 19.89}, {'connected_gene': 'POLG2', 'score': 14.19}, {'connected_gene': 'DDX5', 'score': 13.52}, {'connected_gene': 'CD79B', 'score': 13.18}, {'connected_gene': 'CSHL1', 'score': 12.51}, {'connected_gene': 'GH1', 'score': 12.51}, {'connected_gene': 'DDX42', 'score': 12.09}, {'connected_gene': 'ICAM2', 'score': 12.02}, {'connected_gene': 'SMARCD2', 'score': 11.87}, {'connected_gene': 'CEP95', 'score': 11.32}, {'connected_gene': 'EEF1DP7', 'score': 11.12}, {'connected_gene': 'PLEKHM1P1', 'score': 10.9}, {'connected_gene': 'MAP3K3', 'score': 10.73}, {'connected_gene': 'ENSG00000265982', 'score': 10.37}, {'connected_gene': 'PRR29', 'score': 9.59}, {'connected_gene': 'ARHGAP27P1-BPTFP1-KPNA2P3', 'score': 4.76}, {'connected_gene': 'PSMC5', 'score': 4.15}, {'connected_gene': 'ENSG00000263489', 'score': 0.77}, {'connected_gene': 'SCN4A', 'score': 0.44}, {'connected_gene': 'PIR61137', 'score': 0.39}]
chr17 GH17I063959 63959307 63964929 1.28 [{'connected_gene': 'LOC105371858', 'score': 550.77}, {'connected_gene': 'FTSJ3', 'score': 24.69}, {'connected_gene': 'SMARCD2', 'score': 17.72}, {'connected_gene': 'DDX5', 'score': 17.03}, {'connected_gene': 'PLEKHM1P1', 'score': 15.01}, {'connected_gene': 'POLG2', 'score': 14.4}, {'connected_gene': 'ENSG00000281311', 'score': 14.14}, {'connected_gene': 'DDX42', 'score': 13.32}, {'connected_gene': 'CEP95', 'score': 13.11}, {'connected_gene': 'ENSG00000265982', 'score': 12.59}, {'connected_gene': 'SLC16A6P1', 'score': 12.02}, {'connected_gene': 'ERN1', 'score': 11.42}, {'connected_gene': 'PRR29', 'score': 5.12}, {'connected_gene': 'MAP3K3', 'score': 4.75}, {'connected_gene': 'PSMC5', 'score': 4.67}, {'connected_gene': 'PIR61137', 'score': 0.44}, {'connected_gene': 'SCN4A', 'score': 0.31}]
chr17 GH17I063709 63709792 63710853 0.78 [{'connected_gene': 'PIR56154', 'score': 550.77}, {'connected_gene': 'CSH2', 'score': 17.22}, {'connected_gene': 'STRADA', 'score': 12.06}, {'connected_gene': 'ENSG00000125695', 'score': 12.03}, {'connected_gene': 'PSMC5', 'score': 10.58}, {'connected_gene': 'FTSJ3', 'score': 10.58}, {'connected_gene': 'LIMD2', 'score': 0.44}]
chr17 GH17I063751 63751588 63752585 0.96 [{'connected_gene': 'ENSG00000125695', 'score': 550.77}, {'connected_gene': 'FTSJ3', 'score': 75.69}, {'connected_gene': 'PSMC5', 'score': 11.57}, {'connected_gene': 'STRADA', 'score': 0.39}, {'connected_gene': 'CCDC47', 'score': 0.34}]
chr17 GH17I063783 63783974 63788309 0.89 [{'connected_gene': 'PIR56411', 'score': 550.77}, {'connected_gene': 'FTSJ3', 'score': 76.13}, {'connected_gene': 'PSMC5', 'score': 12.0}, {'connected_gene': 'ENSG00000125695', 'score': 11.89}, {'connected_gene': 'STRADA', 'score': 11.85}, {'connected_gene': 'MAP3K3', 'score': 4.19}, {'connected_gene': 'CCDC47', 'score': 0.44}, {'connected_gene': 'DDX42', 'score': 0.39}]
chr17 GH17I063752 63752821 63752970 0.76 [{'connected_gene': 'GC17P063754', 'score': 550.77}, {'connected_gene': 'ENSG00000125695', 'score': 550.77}, {'connected_gene': 'FTSJ3', 'score': 36.05}, {'connected_gene': 'POLG2', 'score': 28.71}, {'connected_gene': 'CEP95', 'score': 21.67}, {'connected_gene': 'SMARCD2', 'score': 17.75}, {'connected_gene': 'DDX5', 'score': 17.03}, {'connected_gene': 'ENSG00000281311', 'score': 14.1}, {'connected_gene': 'DDX42', 'score': 13.58}, {'connected_gene': 'PSMC5', 'score': 11.58}, {'connected_gene': 'ERN1', 'score': 11.37}, {'connected_gene': 'CCDC47', 'score': 0.34}]

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