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
ENST00000519649 [[102729274, 102729348], [102732285, 102732793], [102732885, 102733034], [102733303, 102733366], [102737388, 102737487], [102738051, 102738145], [102738283, 102738397], [102738605, 102738775], [102738858, 102739028], [102739604, 102739749], [102739878, 102740101], [102740334, 102740450], [102740578, 102740677]] [[102732669, 102732793], [102732885, 102733034], [102733303, 102733366], [102737388, 102737487], [102738051, 102738145], [102738283, 102738397], [102738605, 102738775], [102738858, 102739028], [102739604, 102739749], [102739878, 102740101], [102740334, 102740450], [102740578, 102740677]]
ENST00000521006 [[102729279, 102729681], [102732285, 102732793], [102732885, 102733034], [102733303, 102733366], [102737388, 102737487], [102738051, 102738145], [102738283, 102738397], [102738605, 102738775], [102738858, 102739028], [102739604, 102739749], [102739878, 102740101], [102740334, 102740450], [102740578, 102740739], [102740924, 102740986], [102743061, 102744114], [102744246, 102745373]] [[102732669, 102732793], [102732885, 102733034], [102733303, 102733366], [102737388, 102737487], [102738051, 102738145], [102738283, 102738397], [102738605, 102738775], [102738858, 102739028], [102739604, 102739749], [102739878, 102740101], [102740334, 102740450], [102740578, 102740739], [102740924, 102740986], [102743061, 102743888]]
ENST00000518124 [[102729283, 102729348], [102732650, 102732793], [102732885, 102733034], [102733303, 102733366], [102737388, 102737487], [102738051, 102738128]] [[102732669, 102732793], [102732885, 102733034], [102733303, 102733366], [102737388, 102737487], [102738051, 102738128]]
ENST00000518244 [[102729286, 102729348], [102729448, 102729681], [102732285, 102732642]] None
ENST00000370250 [[102732296, 102732793], [102732885, 102733034], [102733303, 102733366], [102737388, 102737487], [102738051, 102738145], [102738283, 102738397], [102738605, 102738775], [102738858, 102739028], [102739604, 102739749], [102739878, 102740101], [102740334, 102740450], [102740578, 102740739], [102740924, 102740986], [102743061, 102744594]] [[102732669, 102732793], [102732885, 102733034], [102733303, 102733366], [102737388, 102737487], [102738051, 102738145], [102738283, 102738397], [102738605, 102738775], [102738858, 102739028], [102739604, 102739749], [102739878, 102740101], [102740334, 102740450], [102740578, 102740739], [102740924, 102740986], [102743061, 102743888]]
ENST00000517724 [[102732468, 102732793], [102732885, 102733034], [102733303, 102733366], [102737388, 102737487], [102738051, 102738145], [102738283, 102738397], [102738605, 102738775], [102738858, 102739028], [102739604, 102739749], [102739878, 102740101], [102740334, 102740450], [102740578, 102740754], [102740924, 102740986], [102744246, 102745015]] [[102732669, 102732793], [102732885, 102733034], [102733303, 102733366], [102737388, 102737487], [102738051, 102738145], [102738283, 102738397], [102738605, 102738775], [102738858, 102739028], [102739604, 102739749], [102739878, 102740101], [102740334, 102740450], [102740578, 102740754], [102740924, 102740986], [102744246, 102744650]]
ENST00000210633 [[102732591, 102732793], [102732885, 102733034], [102733303, 102733366], [102737388, 102737487], [102738051, 102738145], [102738283, 102738397], [102738605, 102738775], [102738858, 102739028], [102739604, 102739749], [102739878, 102740101], [102740334, 102740450], [102740578, 102740754], [102740924, 102740986], [102743061, 102745372]] [[102732669, 102732793], [102732885, 102733034], [102733303, 102733366], [102737388, 102737487], [102738051, 102738145], [102738283, 102738397], [102738605, 102738775], [102738858, 102739028], [102739604, 102739749], [102739878, 102740101], [102740334, 102740450], [102740578, 102740754], [102740924, 102740986], [102743061, 102743888]]
ENST00000519756 [[102732751, 102732793], [102732885, 102733034], [102733303, 102733366], [102737388, 102737487], [102738051, 102738145], [102738283, 102738397], [102738858, 102739025]] None
ENST00000518948 [[102740616, 102740739], [102740924, 102741177]] None
ENST00000476171 [[102743473, 102743565], [102744246, 102744547]] [[102743473, 102743565], [102744246, 102744547]]
ENST00000484128 [[102743968, 102744114], [102744246, 102744560], [102745374, 102745628]] None
NM_001203244 [[102732285, 102732793], [102732885, 102733034], [102733303, 102733366], [102737388, 102737487], [102738051, 102738145], [102738283, 102738397], [102738605, 102738775], [102738858, 102739028], [102739604, 102739749], [102739878, 102740101], [102740334, 102740450], [102740578, 102740754], [102740924, 102740986], [102744246, 102745373]] [[102732669, 102732793], [102732885, 102733034], [102733303, 102733366], [102737388, 102737487], [102738051, 102738145], [102738283, 102738397], [102738605, 102738775], [102738858, 102739028], [102739604, 102739749], [102739878, 102740101], [102740334, 102740450], [102740578, 102740754], [102740924, 102740986], [102744246, 102744650]]
NM_017893 [[102732285, 102732793], [102732885, 102733034], [102733303, 102733366], [102737388, 102737487], [102738051, 102738145], [102738283, 102738397], [102738605, 102738775], [102738858, 102739028], [102739604, 102739749], [102739878, 102740101], [102740334, 102740450], [102740578, 102740754], [102740924, 102740986], [102743061, 102745373]] [[102732669, 102732793], [102732885, 102733034], [102733303, 102733366], [102737388, 102737487], [102738051, 102738145], [102738283, 102738397], [102738605, 102738775], [102738858, 102739028], [102739604, 102739749], [102739878, 102740101], [102740334, 102740450], [102740578, 102740754], [102740924, 102740986], [102743061, 102743888]]
Promoter
Chrom Start End Description
chr10 102729249 102729308 CAGE_peak_1_at_SEMA4G_5end
chr10 102729313 102729325 CAGE_peak_2_at_SEMA4G_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I100995 100995584 101003024 2.27 [{'connected_gene': 'LZTS2', 'score': 550.77}, {'connected_gene': 'MRPL43', 'score': 14.55}, {'connected_gene': 'SEMA4G', 'score': 12.38}, {'connected_gene': 'MIR608', 'score': 11.84}, {'connected_gene': 'ENSG00000272572', 'score': 10.11}, {'connected_gene': 'KCNIP2', 'score': 5.06}, {'connected_gene': 'PDZD7', 'score': 0.29}]
chr10 GH10I101030 101030066 101036428 2.47 [{'connected_gene': 'PDZD7', 'score': 580.21}, {'connected_gene': 'SFXN3', 'score': 557.7}, {'connected_gene': 'MRPL43', 'score': 34.14}, {'connected_gene': 'TWNK', 'score': 30.97}, {'connected_gene': 'KAZALD1', 'score': 13.04}, {'connected_gene': 'TLX1', 'score': 11.6}, {'connected_gene': 'TLX1NB', 'score': 11.59}, {'connected_gene': 'SEMA4G', 'score': 10.89}, {'connected_gene': 'ENSG00000236662', 'score': 10.68}, {'connected_gene': 'MIR608', 'score': 10.68}, {'connected_gene': 'CWF19L1', 'score': 10.66}, {'connected_gene': 'POLL', 'score': 9.97}, {'connected_gene': 'PHBP9', 'score': 9.88}, {'connected_gene': 'ENSG00000273162', 'score': 0.31}]
chr10 GH10I101028 101028737 101029813 0.82 [{'connected_gene': 'PDZD7', 'score': 550.77}, {'connected_gene': 'SFXN3', 'score': 550.77}, {'connected_gene': 'ENSG00000236662', 'score': 10.7}, {'connected_gene': 'MRPL43', 'score': 10.7}, {'connected_gene': 'TWNK', 'score': 10.7}, {'connected_gene': 'SEMA4G', 'score': 10.31}, {'connected_gene': 'LZTS2', 'score': 0.29}]
chr10 GH10I100968 100968769 100973262 2.17 [{'connected_gene': 'SEMA4G', 'score': 550.77}, {'connected_gene': 'MRPL43', 'score': 14.7}, {'connected_gene': 'PDZD7', 'score': 4.63}, {'connected_gene': 'GC10P100975', 'score': 0.77}]
chr10 GH10I100900 100900644 100902062 0.58 [{'connected_gene': 'SEMA4G', 'score': 10.47}, {'connected_gene': 'ENSG00000236662', 'score': 9.92}, {'connected_gene': 'MRPL43', 'score': 9.92}, {'connected_gene': 'TWNK', 'score': 9.92}, {'connected_gene': 'SLF2', 'score': 6.7}, {'connected_gene': 'ENSG00000222072', 'score': 0.44}, {'connected_gene': 'GC10P100864', 'score': 0.28}]
chr10 GH10I100939 100939904 100940053 0.31 [{'connected_gene': 'SEMA4G', 'score': 11.94}, {'connected_gene': 'SLF2', 'score': 11.85}, {'connected_gene': 'MIR608', 'score': 11.79}, {'connected_gene': 'ENSG00000236662', 'score': 10.95}, {'connected_gene': 'MRPL43', 'score': 10.95}, {'connected_gene': 'TWNK', 'score': 10.95}, {'connected_gene': 'ENSG00000272572', 'score': 0.31}, {'connected_gene': 'ENSG00000273476', 'score': 0.31}]
chr10 GH10I100535 100535160 100536713 2.04 [{'connected_gene': 'HIF1AN', 'score': 556.79}, {'connected_gene': 'SEC31B', 'score': 39.83}, {'connected_gene': 'PHBP9', 'score': 14.0}, {'connected_gene': 'CWF19L1', 'score': 12.45}, {'connected_gene': 'SLC25A28', 'score': 12.13}, {'connected_gene': 'MRPL43', 'score': 9.69}, {'connected_gene': 'SLF2', 'score': 9.55}, {'connected_gene': 'SEMA4G', 'score': 9.2}, {'connected_gene': 'NDUFB8', 'score': 0.44}, {'connected_gene': 'ENSG00000274660', 'score': 0.12}]
chr10 GH10I100633 100633769 100633787 0.23 [{'connected_gene': 'PAX2', 'score': 11.65}, {'connected_gene': 'WNT8B', 'score': 1.4}, {'connected_gene': 'SEMA4G', 'score': 1.25}, {'connected_gene': 'ENSG00000274660', 'score': 0.29}, {'connected_gene': 'NDUFB8', 'score': 0.15}]
chr10 GH10I100985 100985424 100985573 0.6 [{'connected_gene': 'ENSG00000236662', 'score': 550.77}, {'connected_gene': 'PIR56323', 'score': 550.77}, {'connected_gene': 'PIR34755', 'score': 550.77}, {'connected_gene': 'GC10P100985', 'score': 550.77}, {'connected_gene': 'PIR57005', 'score': 550.77}, {'connected_gene': 'GC10M100989', 'score': 550.77}, {'connected_gene': 'TWNK', 'score': 550.77}, {'connected_gene': 'SLF2', 'score': 4.65}, {'connected_gene': 'MRPL43', 'score': 0.77}, {'connected_gene': 'SEMA4G', 'score': 0.37}]
chr10 GH10I100909 100909540 100914389 2.46 [{'connected_gene': 'ENSG00000272572', 'score': 561.28}, {'connected_gene': 'SLF2', 'score': 555.34}, {'connected_gene': 'MRPL43', 'score': 22.19}, {'connected_gene': 'TWNK', 'score': 20.93}, {'connected_gene': 'CWF19L1', 'score': 19.84}, {'connected_gene': 'CHUK', 'score': 19.17}, {'connected_gene': 'POLL', 'score': 18.0}, {'connected_gene': 'PHBP9', 'score': 12.35}, {'connected_gene': 'SEMA4G', 'score': 10.74}, {'connected_gene': 'MIR608', 'score': 10.72}, {'connected_gene': 'DNMBP', 'score': 9.95}, {'connected_gene': 'ENSG00000222072', 'score': 0.77}]