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
ENST00000395631 [[53323985, 53325268], [53326290, 53326432], [53327058, 53327183], [53331118, 53331340], [53331464, 53331571], [53339516, 53339641], [53340894, 53340944], [53341940, 53342075], [53345299, 53345407], [53347753, 53347856], [53347961, 53348187], [53360010, 53360145], [53385840, 53386074], [53417129, 53417295], [53417545, 53417753]] [[53325094, 53325268], [53326290, 53326432], [53327058, 53327183], [53331118, 53331340], [53331464, 53331571], [53339516, 53339641], [53340894, 53340944], [53341940, 53342075], [53345299, 53345407], [53347753, 53347856], [53347961, 53348187], [53360010, 53360145], [53385840, 53386074], [53417129, 53417286]]
ENST00000341590 [[53323985, 53325268], [53326290, 53326432], [53327058, 53327183], [53331118, 53331340], [53331464, 53331571], [53339516, 53339641], [53340894, 53340944], [53341940, 53342075], [53345299, 53345407], [53347753, 53347856], [53347961, 53348187], [53360010, 53360145], [53385840, 53386074], [53417129, 53417295], [53417638, 53417815]] [[53325094, 53325268], [53326290, 53326432], [53327058, 53327183], [53331118, 53331340], [53331464, 53331571], [53339516, 53339641], [53340894, 53340944], [53341940, 53342075], [53345299, 53345407], [53347753, 53347856], [53347961, 53348187], [53360010, 53360145], [53385840, 53386074], [53417129, 53417286]]
ENST00000554152 [[53323988, 53325268], [53326290, 53326432], [53327058, 53327183], [53327731, 53327752], [53331118, 53331340], [53331464, 53331571], [53339516, 53339641], [53340894, 53340944], [53341940, 53342075], [53345299, 53345407], [53347753, 53347856], [53347961, 53348187], [53348513, 53348546], [53360010, 53360145], [53385840, 53386057]] [[53325094, 53325268], [53326290, 53326432], [53327058, 53327183], [53327731, 53327752], [53331118, 53331340], [53331464, 53331571], [53339516, 53339641], [53340894, 53340944], [53341940, 53342075], [53345299, 53345407], [53347753, 53347856], [53347961, 53348187], [53348513, 53348546], [53360010, 53360145], [53385840, 53386057]]
ENST00000343279 [[53323992, 53325268], [53326290, 53326432], [53327058, 53327183], [53327731, 53327752], [53331118, 53331340], [53331464, 53331571], [53339516, 53339641], [53340894, 53340944], [53341940, 53342075], [53345299, 53345407], [53347753, 53347856], [53347961, 53348187], [53360010, 53360145], [53385840, 53386074], [53417129, 53417295], [53417638, 53417815]] [[53325094, 53325268], [53326290, 53326432], [53327058, 53327183], [53327731, 53327752], [53331118, 53331340], [53331464, 53331571], [53339516, 53339641], [53340894, 53340944], [53341940, 53342075], [53345299, 53345407], [53347753, 53347856], [53347961, 53348187], [53360010, 53360145], [53385840, 53386074], [53417129, 53417286]]
ENST00000553373 [[53325094, 53325268], [53326290, 53326432], [53327058, 53327183], [53327731, 53327752], [53331118, 53331340], [53331464, 53331571], [53339516, 53339641], [53340894, 53340944], [53341940, 53342075], [53345299, 53345407], [53347753, 53347856], [53347961, 53348187], [53360010, 53360145], [53385840, 53386074], [53417129, 53417286]] [[53325094, 53325268], [53326290, 53326432], [53327058, 53327183], [53327731, 53327752], [53331118, 53331340], [53331464, 53331571], [53339516, 53339641], [53340894, 53340944], [53341940, 53342075], [53345299, 53345407], [53347753, 53347856], [53347961, 53348187], [53360010, 53360145], [53385840, 53386074], [53417129, 53417286]]
ENST00000399304 [[53326205, 53326432], [53327058, 53327183], [53327731, 53327752], [53331118, 53331340], [53331464, 53331571], [53339516, 53339641], [53340894, 53340944], [53341940, 53342075], [53345299, 53345407], [53347753, 53347856], [53347961, 53348187], [53360010, 53360145], [53385840, 53386074], [53417129, 53417295], [53417638, 53417736]] [[53326278, 53326432], [53327058, 53327183], [53327731, 53327752], [53331118, 53331340], [53331464, 53331571], [53339516, 53339641], [53340894, 53340944], [53341940, 53342075], [53345299, 53345407], [53347753, 53347856], [53347961, 53348187], [53360010, 53360145], [53385840, 53386074], [53417129, 53417286]]
ENST00000557255 [[53323988, 53328902], [53329308, 53330395]] None
ENST00000555546 [[53323989, 53325268], [53326290, 53326432], [53327058, 53328021]] None
ENST00000553663 [[53326023, 53326432], [53327058, 53327183], [53331118, 53331239]] [[53326278, 53326432], [53327058, 53327183], [53331118, 53331239]]
ENST00000553768 [[53326290, 53326432], [53327058, 53327183], [53327731, 53327752], [53331118, 53331340], [53331464, 53331571], [53339516, 53339641], [53340379, 53340428]] None
ENST00000554288 [[53347826, 53347856], [53347961, 53348187], [53360010, 53360145], [53385840, 53386074], [53395063, 53395138]] [[53347826, 53347856], [53347961, 53348187], [53360010, 53360145], [53385840, 53385916]]
ENST00000555692 [[53360005, 53360145], [53385840, 53386074], [53394737, 53395117]] [[53360005, 53360145], [53385840, 53386074], [53394737, 53394762]]
ENST00000554712 [[53360076, 53360145], [53385840, 53386074], [53417129, 53417295], [53419035, 53419153]] [[53360076, 53360145], [53385840, 53386074], [53417129, 53417286]]
ENST00000557562 [[53360093, 53360145], [53385840, 53386074], [53415279, 53415298], [53417129, 53417295], [53417545, 53417629]] [[53386052, 53386074], [53415279, 53415298], [53417129, 53417286]]
NM_001134999 [[53323988, 53325268], [53326290, 53326432], [53327058, 53327183], [53327731, 53327752], [53331118, 53331340], [53331464, 53331571], [53339516, 53339641], [53340894, 53340944], [53341940, 53342075], [53345299, 53345407], [53347753, 53347856], [53347961, 53348187], [53360010, 53360145], [53385840, 53386074], [53417129, 53417295], [53417638, 53417815]] [[53325094, 53325268], [53326290, 53326432], [53327058, 53327183], [53327731, 53327752], [53331118, 53331340], [53331464, 53331571], [53339516, 53339641], [53340894, 53340944], [53341940, 53342075], [53345299, 53345407], [53347753, 53347856], [53347961, 53348187], [53360010, 53360145], [53385840, 53386074], [53417129, 53417286]]
NM_006832 [[53323988, 53325268], [53326290, 53326432], [53327058, 53327183], [53331118, 53331340], [53331464, 53331571], [53339516, 53339641], [53340894, 53340944], [53341940, 53342075], [53345299, 53345407], [53347753, 53347856], [53347961, 53348187], [53360010, 53360145], [53385840, 53386074], [53417129, 53417295], [53417638, 53417815]] [[53325094, 53325268], [53326290, 53326432], [53327058, 53327183], [53331118, 53331340], [53331464, 53331571], [53339516, 53339641], [53340894, 53340944], [53341940, 53342075], [53345299, 53345407], [53347753, 53347856], [53347961, 53348187], [53360010, 53360145], [53385840, 53386074], [53417129, 53417286]]
NM_001135000 [[53326205, 53326432], [53327058, 53327183], [53327731, 53327752], [53331118, 53331340], [53331464, 53331571], [53339516, 53339641], [53340894, 53340944], [53341940, 53342075], [53345299, 53345407], [53347753, 53347856], [53347961, 53348187], [53360010, 53360145], [53385840, 53386074], [53417129, 53417295], [53417638, 53417815]] [[53326278, 53326432], [53327058, 53327183], [53327731, 53327752], [53331118, 53331340], [53331464, 53331571], [53339516, 53339641], [53340894, 53340944], [53341940, 53342075], [53345299, 53345407], [53347753, 53347856], [53347961, 53348187], [53360010, 53360145], [53385840, 53386074], [53417129, 53417286]]
Promoter
Chrom Start End Description
chr14 53331276 53331316 CAGE_peak_6_at_FERMT2_5end
chr14 53340893 53340894 CAGE_peak_23_at_FERMT2_5end
chr14 53417732 53417811 CAGE_peak_1_at_FERMT2_5end
chr14 53417875 53417911 CAGE_peak_2_at_FERMT2_5end
chr14 53417912 53417923 CAGE_peak_3_at_FERMT2_5end
chr14 53417951 53417963 CAGE_peak_5_at_FERMT2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I052922 52922583 52925235 1.07 [{'connected_gene': 'STYX', 'score': 5.44}, {'connected_gene': 'RTRAF', 'score': 5.01}, {'connected_gene': 'ENSG00000258985', 'score': 4.65}, {'connected_gene': 'FERMT2', 'score': 0.31}, {'connected_gene': 'GC14P052872', 'score': 0.23}, {'connected_gene': 'LOC105370500', 'score': 0.12}]
chr14 GH14I052844 52844218 52845877 1.09 [{'connected_gene': 'STYX', 'score': 4.74}, {'connected_gene': 'FERMT2', 'score': 4.45}, {'connected_gene': 'GC14P052872', 'score': 0.31}, {'connected_gene': 'ENSG00000258698', 'score': 0.31}, {'connected_gene': 'LOC105370500', 'score': 0.23}]
chr14 GH14I052897 52897619 52900746 0.56 [{'connected_gene': 'STYX', 'score': 6.37}, {'connected_gene': 'GC14P052872', 'score': 0.31}, {'connected_gene': 'FERMT2', 'score': 0.23}, {'connected_gene': 'LOC105370500', 'score': 0.14}]
chr14 GH14I052848 52848304 52849414 0.31 [{'connected_gene': 'STYX', 'score': 5.68}, {'connected_gene': 'FERMT2', 'score': 4.5}, {'connected_gene': 'GC14P052872', 'score': 0.34}, {'connected_gene': 'ENSG00000258698', 'score': 0.31}, {'connected_gene': 'LOC105370500', 'score': 0.22}]
chr14 GH14I052852 52852591 52853786 1.28 [{'connected_gene': 'STYX', 'score': 4.64}, {'connected_gene': 'FERMT2', 'score': 4.46}, {'connected_gene': 'GC14P052872', 'score': 0.37}, {'connected_gene': 'ENSG00000258698', 'score': 0.29}, {'connected_gene': 'LOC105370500', 'score': 0.21}]
chr14 GH14I052930 52930194 52942026 0.72 [{'connected_gene': 'STYX', 'score': 5.91}, {'connected_gene': 'FERMT2', 'score': 0.37}, {'connected_gene': 'GC14P052872', 'score': 0.21}, {'connected_gene': 'LOC105370500', 'score': 0.11}]
chr14 GH14I052894 52894878 52895341 0.88 [{'connected_gene': 'STYX', 'score': 5.8}, {'connected_gene': 'GC14P052872', 'score': 0.34}, {'connected_gene': 'FERMT2', 'score': 0.22}, {'connected_gene': 'LOC105370500', 'score': 0.15}]
chr14 GH14I052953 52953977 52955526 1.09 [{'connected_gene': 'STYX', 'score': 4.22}, {'connected_gene': 'FERMT2', 'score': 0.77}, {'connected_gene': 'PIR46154', 'score': 0.77}]
chr14 GH14I052868 52868336 52869947 0.49 [{'connected_gene': 'STYX', 'score': 6.0}, {'connected_gene': 'GC14P052872', 'score': 0.77}, {'connected_gene': 'ENSG00000258698', 'score': 0.25}, {'connected_gene': 'LOC105370500', 'score': 0.18}, {'connected_gene': 'FERMT2', 'score': 0.18}]
chr14 GH14I052904 52904437 52909443 1.02 [{'connected_gene': 'TXNDC16', 'score': 6.88}, {'connected_gene': 'STYX', 'score': 6.13}, {'connected_gene': 'LOC101927620', 'score': 4.17}, {'connected_gene': 'GC14P052872', 'score': 0.28}, {'connected_gene': 'FERMT2', 'score': 0.25}, {'connected_gene': 'LOC105370500', 'score': 0.13}]
chr14 GH14I052902 52902601 52904239 0.89 [{'connected_gene': 'RTRAF', 'score': 5.06}, {'connected_gene': 'GC14P052872', 'score': 0.29}, {'connected_gene': 'FERMT2', 'score': 0.25}, {'connected_gene': 'LOC105370500', 'score': 0.14}]
chr14 GH14I052912 52912744 52913996 0.43 [{'connected_gene': 'ERO1A', 'score': 9.89}, {'connected_gene': 'STYX', 'score': 5.94}, {'connected_gene': 'RTRAF', 'score': 4.57}, {'connected_gene': 'FERMT2', 'score': 0.28}, {'connected_gene': 'GC14P052872', 'score': 0.26}, {'connected_gene': 'LOC105370500', 'score': 0.13}]
chr14 GH14I052917 52917225 52920952 1.44 [{'connected_gene': 'ERO1A', 'score': 9.89}, {'connected_gene': 'STYX', 'score': 5.64}, {'connected_gene': 'LOC101927620', 'score': 4.4}, {'connected_gene': 'DDHD1', 'score': 3.68}, {'connected_gene': 'FERMT2', 'score': 0.29}, {'connected_gene': 'GC14P052872', 'score': 0.25}, {'connected_gene': 'LOC105370500', 'score': 0.13}]
chr14 GH14I052909 52909995 52911470 0.2 [{'connected_gene': 'ERO1A', 'score': 9.89}, {'connected_gene': 'RTRAF', 'score': 4.39}, {'connected_gene': 'GC14P052872', 'score': 0.28}, {'connected_gene': 'FERMT2', 'score': 0.26}, {'connected_gene': 'LOC105370500', 'score': 0.13}]
chr14 GH14I052948 52948955 52953114 2.39 [{'connected_gene': 'FERMT2', 'score': 550.77}, {'connected_gene': 'STYX', 'score': 5.65}, {'connected_gene': 'GPR137C', 'score': 1.35}, {'connected_gene': 'GC14P052872', 'score': 0.18}]
chr14 GH14I052846 52846545 52847784 0.38 [{'connected_gene': 'FERMT2', 'score': 4.58}, {'connected_gene': 'ERO1A', 'score': 4.33}, {'connected_gene': 'GC14P052872', 'score': 0.34}, {'connected_gene': 'ENSG00000258698', 'score': 0.31}, {'connected_gene': 'LOC105370500', 'score': 0.22}]
chr14 GH14I053549 53549870 53550730 0.59 [{'connected_gene': 'FERMT2', 'score': 5.53}, {'connected_gene': 'GC14M053511', 'score': 0.28}, {'connected_gene': 'GC14P053501', 'score': 0.25}, {'connected_gene': 'GC14P053502', 'score': 0.25}, {'connected_gene': 'LOC105370504', 'score': 0.09}, {'connected_gene': 'ENSG00000237356', 'score': 0.05}]
chr14 GH14I053536 53536609 53540316 1.09 [{'connected_gene': 'FERMT2', 'score': 4.49}, {'connected_gene': 'GC14P053501', 'score': 0.28}, {'connected_gene': 'GC14P053502', 'score': 0.28}, {'connected_gene': 'GC14M053511', 'score': 0.25}, {'connected_gene': 'LOC105370504', 'score': 0.1}, {'connected_gene': 'ENSG00000237356', 'score': 0.05}]
chr14 GH14I052927 52927000 52927800 1.1 [{'connected_gene': 'FERMT2', 'score': 0.31}, {'connected_gene': 'GC14P052872', 'score': 0.22}, {'connected_gene': 'LOC105370500', 'score': 0.12}]
chr14 GH14I052925 52925692 52926578 1.21 [{'connected_gene': 'FERMT2', 'score': 0.31}, {'connected_gene': 'GC14P052872', 'score': 0.23}, {'connected_gene': 'LOC105370500', 'score': 0.12}]
chr14 GH14I052889 52889047 52889871 0.31 [{'connected_gene': 'GC14P052872', 'score': 0.37}, {'connected_gene': 'FERMT2', 'score': 0.21}, {'connected_gene': 'LOC105370500', 'score': 0.15}]
chr14 GH14I052890 52890810 52891938 0.43 [{'connected_gene': 'GC14P052872', 'score': 0.37}, {'connected_gene': 'FERMT2', 'score': 0.21}, {'connected_gene': 'LOC105370500', 'score': 0.15}]
chr14 GH14I052876 52876373 52877979 0.69 [{'connected_gene': 'GC14P052872', 'score': 0.44}, {'connected_gene': 'FERMT2', 'score': 0.18}, {'connected_gene': 'LOC105370500', 'score': 0.17}]
chr14 GH14I052879 52879412 52883157 0.31 [{'connected_gene': 'GC14P052872', 'score': 0.44}, {'connected_gene': 'FERMT2', 'score': 0.19}, {'connected_gene': 'LOC105370500', 'score': 0.17}]
chr14 GH14I052901 52901266 52902047 0.31 [{'connected_gene': 'GC14P052872', 'score': 0.29}, {'connected_gene': 'FERMT2', 'score': 0.23}, {'connected_gene': 'LOC105370500', 'score': 0.14}]
chr14 GH14I052900 52900823 52900972 0.86 [{'connected_gene': 'GC14P052872', 'score': 0.31}, {'connected_gene': 'FERMT2', 'score': 0.23}, {'connected_gene': 'LOC105370500', 'score': 0.14}]
chr14 GH14I052871 52871537 52874432 0.88 [{'connected_gene': 'GC14P052872', 'score': 550.77}, {'connected_gene': 'FERMT2', 'score': 0.18}, {'connected_gene': 'LOC105370500', 'score': 0.18}]
chr14 GH14I052861 52861823 52864910 0.51 [{'connected_gene': 'GC14P052872', 'score': 0.44}, {'connected_gene': 'ENSG00000258698', 'score': 0.26}, {'connected_gene': 'LOC105370500', 'score': 0.19}, {'connected_gene': 'FERMT2', 'score': 0.17}]

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