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
ENST00000355112 [[91260557, 91260671], [91290618, 91290720], [91292596, 91293297], [91295016, 91295176], [91298040, 91298168], [91303376, 91303509], [91303823, 91304485], [91306195, 91306387], [91308525, 91308644], [91310139, 91310253], [91312362, 91312461], [91312667, 91312816], [91326051, 91326158], [91328150, 91328311], [91333878, 91334074], [91337396, 91337587], [91341419, 91341567], [91346750, 91346950], [91347396, 91347589], [91352366, 91352489], [91354434, 91354636], [91358331, 91358692]] [[91290622, 91290720], [91292596, 91293297], [91295016, 91295176], [91298040, 91298168], [91303376, 91303509], [91303823, 91304485], [91306195, 91306387], [91308525, 91308644], [91310139, 91310253], [91312362, 91312461], [91312667, 91312816], [91326051, 91326158], [91328150, 91328311], [91333878, 91334074], [91337396, 91337587], [91341419, 91341567], [91346750, 91346950], [91347396, 91347589], [91352366, 91352489], [91354434, 91354636], [91358331, 91358509]]
ENST00000560509 [[91260624, 91260671], [91290618, 91290720], [91292596, 91293297], [91295016, 91295176], [91298040, 91298168], [91303376, 91303509], [91303823, 91304485], [91306195, 91306387], [91308525, 91308644], [91310139, 91310253], [91312362, 91312461], [91312667, 91312816], [91326051, 91326158], [91328150, 91328311], [91333878, 91334074], [91337396, 91337587], [91341419, 91341567], [91352366, 91352489], [91354434, 91354636], [91358331, 91358563]] [[91290622, 91290720], [91292596, 91293297], [91295016, 91295176], [91298040, 91298168], [91303376, 91303509], [91303823, 91304485], [91306195, 91306387], [91308525, 91308644], [91310139, 91310253], [91312362, 91312461], [91312667, 91312816], [91326051, 91326158], [91328150, 91328311], [91333878, 91334074], [91337396, 91337587], [91341419, 91341567], [91352366, 91352489], [91354434, 91354636], [91358331, 91358509]]
ENST00000559724 [[91260634, 91260671], [91290618, 91290720], [91292596, 91293297], [91295016, 91295176], [91298040, 91298168], [91303210, 91303509], [91303823, 91304485], [91306195, 91306387], [91308525, 91308644], [91310139, 91310253], [91312362, 91312461], [91312667, 91312816], [91326051, 91326158], [91328150, 91328311], [91333878, 91334074], [91337396, 91337587], [91341419, 91341567], [91346750, 91346950], [91347396, 91347589], [91352366, 91352489], [91354434, 91354636], [91358331, 91358558]] [[91290622, 91290720], [91292596, 91293297], [91295016, 91295176], [91298040, 91298168], [91303210, 91303365]]
ENST00000558825 [[91337030, 91337587], [91341419, 91341567], [91346750, 91346950], [91347396, 91347589], [91352366, 91352489], [91354434, 91354636], [91358331, 91358591]] None
ENST00000560821 [[91352000, 91352171], [91352366, 91352489], [91354434, 91354636], [91358331, 91358859]] None
ENST00000559282 [[91290619, 91290891], [91292596, 91293190]] None
ENST00000558599 [[91293237, 91293297], [91295016, 91295176], [91298040, 91298168], [91303823, 91304052]] None
ENST00000559426 [[91305593, 91305652], [91306195, 91306387], [91308525, 91308644], [91310139, 91310253], [91312362, 91312411]] None
ENST00000560136 [[91305625, 91305652], [91306195, 91306387], [91310139, 91310253], [91312362, 91312461], [91312667, 91312816], [91326051, 91326158], [91328150, 91328311], [91333878, 91334074], [91337396, 91337587], [91341419, 91341567], [91346750, 91346950], [91347396, 91347589], [91352366, 91352489], [91354434, 91354557]] None
ENST00000560559 [[91333518, 91334074], [91337396, 91337587]] None
NM_001287247 [[91260557, 91260671], [91290618, 91290720], [91292596, 91293297], [91295016, 91295176], [91298040, 91298168], [91303376, 91303509], [91303823, 91304485], [91306195, 91306387], [91308525, 91308644], [91310139, 91310253], [91312362, 91312461], [91312667, 91312816], [91326051, 91326158], [91328150, 91328311], [91333878, 91334074], [91337396, 91337587], [91341419, 91341567], [91352366, 91352489], [91354434, 91354636], [91358331, 91358692]] [[91290622, 91290720], [91292596, 91293297], [91295016, 91295176], [91298040, 91298168], [91303376, 91303509], [91303823, 91304485], [91306195, 91306387], [91308525, 91308644], [91310139, 91310253], [91312362, 91312461], [91312667, 91312816], [91326051, 91326158], [91328150, 91328311], [91333878, 91334074], [91337396, 91337587], [91341419, 91341567], [91352366, 91352489], [91354434, 91354636], [91358331, 91358509]]
NM_000057 [[91260557, 91260671], [91290618, 91290720], [91292596, 91293297], [91295016, 91295176], [91298040, 91298168], [91303376, 91303509], [91303823, 91304485], [91306195, 91306387], [91308525, 91308644], [91310139, 91310253], [91312362, 91312461], [91312667, 91312816], [91326051, 91326158], [91328150, 91328311], [91333878, 91334074], [91337396, 91337587], [91341419, 91341567], [91346750, 91346950], [91347396, 91347589], [91352366, 91352489], [91354434, 91354636], [91358331, 91358692]] [[91290622, 91290720], [91292596, 91293297], [91295016, 91295176], [91298040, 91298168], [91303376, 91303509], [91303823, 91304485], [91306195, 91306387], [91308525, 91308644], [91310139, 91310253], [91312362, 91312461], [91312667, 91312816], [91326051, 91326158], [91328150, 91328311], [91333878, 91334074], [91337396, 91337587], [91341419, 91341567], [91346750, 91346950], [91347396, 91347589], [91352366, 91352489], [91354434, 91354636], [91358331, 91358509]]
NM_001287248 [[91260557, 91260671], [91290618, 91290720], [91292596, 91293297], [91295016, 91295176], [91298040, 91298168], [91303210, 91303509], [91303823, 91304485], [91306195, 91306387], [91308525, 91308644], [91310139, 91310253], [91312362, 91312461], [91312667, 91312816], [91326051, 91326158], [91328150, 91328311], [91333878, 91334074], [91337396, 91337587], [91341419, 91341567], [91346750, 91346950], [91347396, 91347589], [91352366, 91352489], [91354434, 91354636], [91358331, 91358692]] [[91303414, 91303509], [91303823, 91304485], [91306195, 91306387], [91308525, 91308644], [91310139, 91310253], [91312362, 91312461], [91312667, 91312816], [91326051, 91326158], [91328150, 91328311], [91333878, 91334074], [91337396, 91337587], [91341419, 91341567], [91346750, 91346950], [91347396, 91347589], [91352366, 91352489], [91354434, 91354636], [91358331, 91358509]]
NM_001287246 [[91260557, 91260671], [91267264, 91267374], [91290618, 91290720], [91292596, 91293297], [91295016, 91295176], [91298040, 91298168], [91303376, 91303509], [91303823, 91304485], [91306195, 91306387], [91308525, 91308644], [91310139, 91310253], [91312362, 91312461], [91312667, 91312816], [91326051, 91326158], [91328150, 91328311], [91333878, 91334074], [91337396, 91337587], [91341419, 91341567], [91346750, 91346950], [91347396, 91347589], [91352366, 91352489], [91354434, 91354636], [91358331, 91358692]] [[91290622, 91290720], [91292596, 91293297], [91295016, 91295176], [91298040, 91298168], [91303376, 91303509], [91303823, 91304485], [91306195, 91306387], [91308525, 91308644], [91310139, 91310253], [91312362, 91312461], [91312667, 91312816], [91326051, 91326158], [91328150, 91328311], [91333878, 91334074], [91337396, 91337587], [91341419, 91341567], [91346750, 91346950], [91347396, 91347589], [91352366, 91352489], [91354434, 91354636], [91358331, 91358509]]
Promoter
Chrom Start End Description
chr15 91260552 91260644 CAGE_peak_1_at_BLM_5end
chr15 91293174 91293188 CAGE_peak_3_at_BLM_5end
chr15 91293261 91293273 CAGE_peak_4_at_BLM_5end
chr15 91333252 91333256 CAGE_peak_2_at_BLM_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I090641 90641401 90643545 0.56 [{'connected_gene': 'BLM', 'score': 11.62}, {'connected_gene': 'CRTC3', 'score': 10.87}, {'connected_gene': 'ENSG00000200677', 'score': 10.84}, {'connected_gene': 'ENSG00000259212', 'score': 5.93}, {'connected_gene': 'IQGAP1', 'score': 5.24}, {'connected_gene': 'ENSG00000228998', 'score': 4.34}, {'connected_gene': 'HSPE1P3', 'score': 0.44}, {'connected_gene': 'ENSG00000278370', 'score': 0.44}, {'connected_gene': 'CRTC3-AS1', 'score': 0.19}]
chr15 GH15I090807 90807110 90809000 0.51 [{'connected_gene': 'BLM', 'score': 15.78}, {'connected_gene': 'FURIN', 'score': 11.78}, {'connected_gene': 'FES', 'score': 11.75}, {'connected_gene': 'ENSG00000200677', 'score': 11.7}, {'connected_gene': 'VPS33B-DT', 'score': 11.65}, {'connected_gene': 'MAN2A2', 'score': 11.28}, {'connected_gene': 'CRTC3', 'score': 10.13}, {'connected_gene': 'GABARAPL3', 'score': 9.83}, {'connected_gene': 'PIR44829', 'score': 0.77}, {'connected_gene': 'GC15M090794', 'score': 0.39}, {'connected_gene': 'GC15M090790', 'score': 0.37}]
chr15 GH15I090738 90738709 90739599 0.54 [{'connected_gene': 'BLM', 'score': 11.49}, {'connected_gene': 'FES', 'score': 11.14}, {'connected_gene': 'MAN2A2', 'score': 11.0}, {'connected_gene': 'CRTC3', 'score': 9.98}, {'connected_gene': 'ENSG00000200677', 'score': 0.37}, {'connected_gene': 'GC15M090756', 'score': 0.37}]
chr15 GH15I090740 90740770 90740829 0.86 [{'connected_gene': 'BLM', 'score': 561.3}, {'connected_gene': 'FES', 'score': 11.02}, {'connected_gene': 'MAN2A2', 'score': 11.0}, {'connected_gene': 'CRTC3', 'score': 9.98}, {'connected_gene': 'ENSG00000200677', 'score': 0.39}, {'connected_gene': 'GC15M090756', 'score': 0.39}]
chr15 GH15I090813 90813290 90819720 1.37 [{'connected_gene': 'BLM', 'score': 21.08}, {'connected_gene': 'FES', 'score': 16.25}, {'connected_gene': 'MAN2A2', 'score': 11.93}, {'connected_gene': 'ENSG00000200677', 'score': 11.41}, {'connected_gene': 'CRTC3', 'score': 9.78}, {'connected_gene': 'GC15M090794', 'score': 0.77}, {'connected_gene': 'PIR44829', 'score': 0.77}]
chr15 GH15I090742 90742001 90742600 0.38 [{'connected_gene': 'BLM', 'score': 11.3}, {'connected_gene': 'FES', 'score': 11.02}, {'connected_gene': 'MAN2A2', 'score': 11.01}, {'connected_gene': 'CRTC3', 'score': 9.98}, {'connected_gene': 'ENSG00000200677', 'score': 0.39}, {'connected_gene': 'GC15M090756', 'score': 0.39}]
chr15 GH15I090823 90823071 90824922 0.99 [{'connected_gene': 'BLM', 'score': 10.09}, {'connected_gene': 'GC15M090794', 'score': 0.77}, {'connected_gene': 'LOC105370969', 'score': 0.37}]
chr15 GH15I090785 90785994 90787512 0.84 [{'connected_gene': 'BLM', 'score': 4.96}, {'connected_gene': 'GC15M090790', 'score': 0.77}, {'connected_gene': 'ENSG00000200677', 'score': 0.29}, {'connected_gene': 'GC15M090756', 'score': 0.29}]
chr15 GH15I090761 90761689 90762880 0.63 [{'connected_gene': 'BLM', 'score': 10.93}, {'connected_gene': 'ENSG00000200677', 'score': 0.44}, {'connected_gene': 'GC15M090756', 'score': 0.44}, {'connected_gene': 'GC15M090790', 'score': 0.31}]
chr15 GH15I090774 90774894 90776036 0.69 [{'connected_gene': 'FES', 'score': 12.45}, {'connected_gene': 'BLM', 'score': 10.84}, {'connected_gene': 'CRTC3', 'score': 10.58}, {'connected_gene': 'VPS33B', 'score': 5.66}, {'connected_gene': 'GC15M090790', 'score': 0.37}, {'connected_gene': 'ENSG00000200677', 'score': 0.34}, {'connected_gene': 'GC15M090756', 'score': 0.34}]
chr15 GH15I090637 90637553 90638706 0.52 [{'connected_gene': 'FES', 'score': 11.53}, {'connected_gene': 'MAN2A2', 'score': 11.51}, {'connected_gene': 'BLM', 'score': 11.49}, {'connected_gene': 'CRTC3', 'score': 11.34}, {'connected_gene': 'ENSG00000200677', 'score': 10.88}, {'connected_gene': 'NGRN', 'score': 9.74}, {'connected_gene': 'HSPE1P3', 'score': 0.77}, {'connected_gene': 'ENSG00000278370', 'score': 0.39}, {'connected_gene': 'CRTC3-AS1', 'score': 0.18}]
chr15 GH15I090835 90835911 90842736 1.71 [{'connected_gene': 'LOC105370969', 'score': 559.05}, {'connected_gene': 'UNC45A', 'score': 24.0}, {'connected_gene': 'FES', 'score': 20.55}, {'connected_gene': 'BLM', 'score': 17.98}, {'connected_gene': 'FURIN', 'score': 13.79}, {'connected_gene': 'VPS33B-DT', 'score': 13.57}, {'connected_gene': 'LOC100631255', 'score': 12.19}, {'connected_gene': 'MAN2A2', 'score': 11.75}, {'connected_gene': 'HDDC3', 'score': 11.42}, {'connected_gene': 'ENSG00000259314', 'score': 11.27}, {'connected_gene': 'ENSG00000200677', 'score': 11.01}, {'connected_gene': 'VPS33B', 'score': 10.72}, {'connected_gene': 'CRTC3', 'score': 1.97}, {'connected_gene': 'IQGAP1', 'score': 1.32}, {'connected_gene': 'GC15M090794', 'score': 0.37}]
chr15 GH15I090659 90659627 90662185 1.37 [{'connected_gene': 'LINC01585', 'score': 550.77}, {'connected_gene': 'BLM', 'score': 12.19}, {'connected_gene': 'CRTC3', 'score': 10.9}, {'connected_gene': 'ENSG00000200677', 'score': 10.73}, {'connected_gene': 'GC15P090677', 'score': 0.37}, {'connected_gene': 'CRTC3-AS1', 'score': 0.22}]
chr15 GH15I090790 90790131 90790280 0.2 [{'connected_gene': 'GC15M090790', 'score': 550.77}, {'connected_gene': 'ENSG00000200677', 'score': 11.48}, {'connected_gene': 'CRTC3', 'score': 10.89}, {'connected_gene': 'GC15M090756', 'score': 0.29}, {'connected_gene': 'BLM', 'score': 0.19}]
chr15 GH15I090645 90645573 90646523 1.03 [{'connected_gene': 'ENSG00000259314', 'score': 13.05}, {'connected_gene': 'BLM', 'score': 11.62}, {'connected_gene': 'ENSG00000259212', 'score': 11.16}, {'connected_gene': 'CRTC3', 'score': 10.86}, {'connected_gene': 'ENSG00000200677', 'score': 10.85}, {'connected_gene': 'RCCD1', 'score': 10.51}, {'connected_gene': 'UNC45A', 'score': 10.39}, {'connected_gene': 'ENSG00000278370', 'score': 0.77}, {'connected_gene': 'HSPE1P3', 'score': 0.39}, {'connected_gene': 'CRTC3-AS1', 'score': 0.19}]
chr15 GH15I090716 90716142 90718534 2.06 [{'connected_gene': 'PIR32733', 'score': 550.77}, {'connected_gene': 'BLM', 'score': 550.77}, {'connected_gene': 'CRTC3-AS1', 'score': 550.77}, {'connected_gene': 'LOC100631255', 'score': 24.63}, {'connected_gene': 'UNC45A', 'score': 24.1}, {'connected_gene': 'ENSG00000259314', 'score': 20.34}, {'connected_gene': 'ENSG00000259212', 'score': 13.93}, {'connected_gene': 'ENSG00000200677', 'score': 12.33}, {'connected_gene': 'ENSG00000228998', 'score': 5.7}, {'connected_gene': 'GC15M090756', 'score': 0.28}]
chr15 GH15I090781 90781001 90781200 0.2 [{'connected_gene': 'GC15M090790', 'score': 0.44}, {'connected_gene': 'ENSG00000200677', 'score': 0.31}, {'connected_gene': 'GC15M090756', 'score': 0.31}, {'connected_gene': 'BLM', 'score': 0.21}]
chr15 GH15I090749 90749801 90751000 0.6 [{'connected_gene': 'ENSG00000200677', 'score': 0.77}, {'connected_gene': 'GC15M090756', 'score': 0.77}, {'connected_gene': 'BLM', 'score': 0.29}]
chr15 GH15I090647 90647002 90651703 1.75 [{'connected_gene': 'ENSG00000278370', 'score': 550.77}, {'connected_gene': 'ENSG00000259314', 'score': 25.09}, {'connected_gene': 'UNC45A', 'score': 23.81}, {'connected_gene': 'ENSG00000259212', 'score': 13.46}, {'connected_gene': 'BLM', 'score': 11.63}, {'connected_gene': 'CRTC3', 'score': 10.86}, {'connected_gene': 'ENSG00000200677', 'score': 10.85}, {'connected_gene': 'ZNF774', 'score': 10.06}, {'connected_gene': 'GABARAPL3', 'score': 10.06}, {'connected_gene': 'FES', 'score': 5.61}, {'connected_gene': 'ZNF710', 'score': 5.16}, {'connected_gene': 'GDPGP1', 'score': 1.79}, {'connected_gene': 'IQGAP1', 'score': 1.16}, {'connected_gene': 'HSPE1P3', 'score': 0.39}, {'connected_gene': 'CRTC3-AS1', 'score': 0.2}]
chr15 GH15I090664 90664401 90666499 1.38 [{'connected_gene': 'ENSG00000259314', 'score': 24.18}, {'connected_gene': 'ENSG00000259212', 'score': 22.59}, {'connected_gene': 'UNC45A', 'score': 21.6}, {'connected_gene': 'WDR93', 'score': 13.51}, {'connected_gene': 'NIFKP5', 'score': 11.58}, {'connected_gene': 'FES', 'score': 11.25}, {'connected_gene': 'MAN2A2', 'score': 11.24}, {'connected_gene': 'BLM', 'score': 11.13}, {'connected_gene': 'RCCD1', 'score': 10.52}, {'connected_gene': 'ENSG00000200677', 'score': 10.12}, {'connected_gene': 'ZNF774', 'score': 9.99}, {'connected_gene': 'GABARAPL3', 'score': 9.99}, {'connected_gene': 'LINC01585', 'score': 0.44}, {'connected_gene': 'GC15P090677', 'score': 0.39}, {'connected_gene': 'CRTC3-AS1', 'score': 0.23}]
chr15 GH15I090923 90923051 90923200 0.76 [{'connected_gene': 'ENSG00000259661', 'score': 550.77}, {'connected_gene': 'MAN2A2', 'score': 13.4}, {'connected_gene': 'FES', 'score': 13.34}, {'connected_gene': 'FURIN', 'score': 12.65}, {'connected_gene': 'VPS33B-DT', 'score': 12.57}, {'connected_gene': 'BLM', 'score': 10.51}, {'connected_gene': 'ENSG00000200677', 'score': 9.89}, {'connected_gene': 'CRTC3', 'score': 9.12}, {'connected_gene': 'UNC45A', 'score': 0.44}]
chr15 GH15I090812 90812001 90813000 0.4 [{'connected_gene': 'PIR44829', 'score': 550.77}, {'connected_gene': 'FES', 'score': 15.9}, {'connected_gene': 'FURIN', 'score': 11.64}, {'connected_gene': 'ENSG00000200677', 'score': 11.62}, {'connected_gene': 'VPS33B-DT', 'score': 11.5}, {'connected_gene': 'MAN2A2', 'score': 11.29}, {'connected_gene': 'CRTC3', 'score': 10.13}, {'connected_gene': 'BLM', 'score': 4.81}, {'connected_gene': 'GC15M090794', 'score': 0.44}, {'connected_gene': 'GC15M090790', 'score': 0.34}]

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