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
ENST00000330062 [[90626276, 90627585], [90628047, 90628140], [90628232, 90628330], [90628506, 90628619], [90630343, 90630495], [90630670, 90630807], [90631590, 90631734], [90631818, 90631979], [90633710, 90633876], [90634784, 90634876], [90645507, 90645736]] [[90627497, 90627585], [90628047, 90628140], [90628232, 90628330], [90628506, 90628619], [90630343, 90630495], [90630670, 90630807], [90631590, 90631734], [90631818, 90631979], [90633710, 90633876], [90634784, 90634876], [90645507, 90645622]]
ENST00000560061 [[90627227, 90627585], [90628047, 90628140], [90628232, 90628330], [90628506, 90628619], [90630343, 90630495], [90630670, 90630807], [90631590, 90631734], [90631818, 90631979], [90645507, 90645700]] [[90631977, 90631979], [90645507, 90645622]]
ENST00000539790 [[90627227, 90627585], [90628047, 90628140], [90628232, 90628330], [90628506, 90628619], [90630343, 90630495], [90630670, 90630807], [90631590, 90631734], [90631818, 90631979], [90645507, 90645700]] [[90627497, 90627585], [90628047, 90628140], [90628232, 90628330], [90628506, 90628619], [90630343, 90630495], [90630670, 90630807], [90631590, 90631734], [90631818, 90631962]]
ENST00000559482 [[90627245, 90627585], [90628232, 90628330], [90628506, 90628619], [90630343, 90630495], [90630670, 90630807], [90631590, 90631734], [90634784, 90634876], [90645507, 90645709]] [[90627497, 90627585], [90628232, 90628330], [90628506, 90628619], [90630343, 90630495], [90630670, 90630807], [90631590, 90631734], [90634784, 90634876], [90645507, 90645622]]
ENST00000540499 [[90627408, 90627585], [90628047, 90628140], [90628232, 90628330], [90628506, 90628619], [90630343, 90630495], [90630670, 90630807], [90631590, 90631734], [90631818, 90631979], [90633710, 90633876], [90634784, 90634876], [90643807, 90643927]] [[90627497, 90627585], [90628047, 90628140], [90628232, 90628330], [90628506, 90628619], [90630343, 90630495], [90630670, 90630807], [90631590, 90631734], [90631818, 90631979], [90633710, 90633876], [90634784, 90634835]]
NM_001289910 [[90627209, 90627585], [90628047, 90628140], [90628232, 90628330], [90628506, 90628619], [90630343, 90630495], [90630670, 90630807], [90631590, 90631734], [90631818, 90631979], [90633710, 90633876], [90634784, 90634876], [90643807, 90643853]] [[90627497, 90627585], [90628047, 90628140], [90628232, 90628330], [90628506, 90628619], [90630343, 90630495], [90630670, 90630807], [90631590, 90631734], [90631818, 90631979], [90633710, 90633876], [90634784, 90634835]]
NM_002168 [[90627209, 90627585], [90628047, 90628140], [90628232, 90628330], [90628506, 90628619], [90630343, 90630495], [90630670, 90630807], [90631590, 90631734], [90631818, 90631979], [90633710, 90633876], [90634784, 90634876], [90645507, 90645786]] [[90627497, 90627585], [90628047, 90628140], [90628232, 90628330], [90628506, 90628619], [90630343, 90630495], [90630670, 90630807], [90631590, 90631734], [90631818, 90631979], [90633710, 90633876], [90634784, 90634876], [90645507, 90645622]]
NM_001290114 [[90627209, 90627585], [90628047, 90628140], [90628232, 90628330], [90628506, 90628619], [90630343, 90630495], [90630670, 90630807], [90631590, 90631734], [90631818, 90631979], [90645507, 90645786]] [[90627497, 90627585], [90628047, 90628140], [90628232, 90628330], [90628506, 90628619], [90630343, 90630495], [90630670, 90630807], [90631590, 90631734], [90631818, 90631962]]
Promoter
Chrom Start End Description
chr15 90645536 90645556 CAGE_peak_2_at_IDH2_5end
chr15 90645675 90645678 CAGE_peak_3_at_IDH2_5end
chr15 90645679 90645753 CAGE_peak_1_at_IDH2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I090157 90157421 90169662 1.76 [{'connected_gene': 'UNC45A', 'score': 21.19}, {'connected_gene': 'CIB1', 'score': 20.71}, {'connected_gene': 'ENSG00000259314', 'score': 20.06}, {'connected_gene': 'POLG', 'score': 16.66}, {'connected_gene': 'RCCD1', 'score': 14.39}, {'connected_gene': 'SEMA4B', 'score': 12.99}, {'connected_gene': 'LOC100631255', 'score': 12.23}, {'connected_gene': 'RPL36AP43', 'score': 11.74}, {'connected_gene': 'GDPGP1', 'score': 11.64}, {'connected_gene': 'NGRN', 'score': 11.59}, {'connected_gene': 'GABARAPL3', 'score': 10.11}, {'connected_gene': 'ZNF774', 'score': 9.72}, {'connected_gene': 'MESP1', 'score': 9.28}, {'connected_gene': 'TTLL13P', 'score': 6.83}, {'connected_gene': 'IDH2', 'score': 6.47}, {'connected_gene': 'ENSG00000228998', 'score': 4.77}, {'connected_gene': 'ZNF710', 'score': 1.91}, {'connected_gene': 'IQGAP1', 'score': 1.62}, {'connected_gene': 'RN7SL346P', 'score': 0.77}]
chr15 GH15I090056 90056441 90065999 1.71 [{'connected_gene': 'ZNF710', 'score': 26.62}, {'connected_gene': 'IQGAP1', 'score': 21.69}, {'connected_gene': 'POLG', 'score': 16.66}, {'connected_gene': 'UNC45A', 'score': 12.83}, {'connected_gene': 'LOC100631255', 'score': 12.25}, {'connected_gene': 'ENSG00000259314', 'score': 11.23}, {'connected_gene': 'IDH2', 'score': 11.03}, {'connected_gene': 'MESP1', 'score': 10.4}, {'connected_gene': 'ENSG00000228998', 'score': 4.87}, {'connected_gene': 'AP3S2', 'score': 3.06}, {'connected_gene': 'SEMA4B', 'score': 2.23}, {'connected_gene': 'CIB1', 'score': 2.21}, {'connected_gene': 'ANPEP', 'score': 1.99}, {'connected_gene': 'PIR55871', 'score': 0.44}, {'connected_gene': 'ENSG00000273691', 'score': 0.28}]
chr15 GH15I090088 90087469 90087678 0.84 [{'connected_gene': 'ZNF710', 'score': 11.19}, {'connected_gene': 'NGRN', 'score': 9.92}, {'connected_gene': 'ZNF774', 'score': 8.8}, {'connected_gene': 'GABARAPL3', 'score': 8.8}, {'connected_gene': 'GC15P090091', 'score': 0.77}, {'connected_gene': 'PIR40514', 'score': 0.77}, {'connected_gene': 'ZNF710-AS1', 'score': 0.44}, {'connected_gene': 'IDH2', 'score': 0.39}]
chr15 GH15I090087 90087849 90087998 0.83 [{'connected_gene': 'ZNF710', 'score': 11.19}, {'connected_gene': 'NGRN', 'score': 9.92}, {'connected_gene': 'ZNF774', 'score': 8.8}, {'connected_gene': 'GABARAPL3', 'score': 8.8}, {'connected_gene': 'GC15P090091', 'score': 0.77}, {'connected_gene': 'PIR40514', 'score': 0.77}, {'connected_gene': 'ZNF710-AS1', 'score': 0.44}, {'connected_gene': 'IDH2', 'score': 0.39}]
chr15 GH15I090086 90086889 90087058 0.83 [{'connected_gene': 'ZNF710', 'score': 11.19}, {'connected_gene': 'NGRN', 'score': 9.92}, {'connected_gene': 'GABARAPL3', 'score': 8.8}, {'connected_gene': 'ZNF774', 'score': 8.8}, {'connected_gene': 'GC15P090091', 'score': 0.77}, {'connected_gene': 'PIR40514', 'score': 0.77}, {'connected_gene': 'ZNF710-AS1', 'score': 0.77}, {'connected_gene': 'IDH2', 'score': 0.37}]
chr15 GH15I090094 90094528 90105741 2.24 [{'connected_gene': 'IDH2', 'score': 603.58}, {'connected_gene': 'ENSG00000259314', 'score': 19.44}, {'connected_gene': 'UNC45A', 'score': 17.42}, {'connected_gene': 'POLG', 'score': 15.93}, {'connected_gene': 'LOC100631255', 'score': 15.06}, {'connected_gene': 'ENSG00000259212', 'score': 13.85}, {'connected_gene': 'FANCI', 'score': 10.38}, {'connected_gene': 'NGRN', 'score': 10.36}, {'connected_gene': 'GDPGP1', 'score': 9.97}, {'connected_gene': 'IDH2-DT', 'score': 0.77}, {'connected_gene': 'GC15P090091', 'score': 0.39}, {'connected_gene': 'PIR40514', 'score': 0.39}]
chr15 GH15I090126 90126189 90126338 0.59 [{'connected_gene': 'IDH2', 'score': 12.48}, {'connected_gene': 'NGRN', 'score': 10.91}, {'connected_gene': 'MESP1', 'score': 10.13}, {'connected_gene': 'GC15P090129', 'score': 0.77}, {'connected_gene': 'GC15M090124', 'score': 0.37}, {'connected_gene': 'IDH2-DT', 'score': 0.34}]
chr15 GH15I090127 90126465 90127356 1.06 [{'connected_gene': 'IDH2', 'score': 36.72}, {'connected_gene': 'NGRN', 'score': 10.91}, {'connected_gene': 'MESP1', 'score': 10.13}, {'connected_gene': 'GC15P090129', 'score': 0.77}, {'connected_gene': 'GC15M090124', 'score': 0.39}, {'connected_gene': 'IDH2-DT', 'score': 0.34}]
chr15 GH15I090106 90106239 90107428 1.24 [{'connected_gene': 'IDH2', 'score': 53.4}, {'connected_gene': 'IDH2-DT', 'score': 0.77}, {'connected_gene': 'GC15P090129', 'score': 0.34}]
chr15 GH15I090093 90093904 90094385 0.31 [{'connected_gene': 'IDH2', 'score': 44.61}, {'connected_gene': 'GC15P090091', 'score': 0.77}, {'connected_gene': 'PIR40514', 'score': 0.77}]
chr15 GH15I090151 90151795 90153181 0.72 [{'connected_gene': 'CIB1', 'score': 12.19}, {'connected_gene': 'GDPGP1', 'score': 11.57}, {'connected_gene': 'NGRN', 'score': 11.24}, {'connected_gene': 'ZNF774', 'score': 9.8}, {'connected_gene': 'GABARAPL3', 'score': 9.8}, {'connected_gene': 'SEMA4B', 'score': 8.65}, {'connected_gene': 'IDH2', 'score': 6.93}, {'connected_gene': 'GC15M090124', 'score': 0.39}]
chr15 GH15I090153 90153956 90155890 1.37 [{'connected_gene': 'CIB1', 'score': 12.88}, {'connected_gene': 'GDPGP1', 'score': 11.63}, {'connected_gene': 'NGRN', 'score': 11.58}, {'connected_gene': 'GABARAPL3', 'score': 10.11}, {'connected_gene': 'ZNF774', 'score': 9.8}, {'connected_gene': 'SEMA4B', 'score': 9.55}, {'connected_gene': 'IDH2', 'score': 6.39}, {'connected_gene': 'GC15M090124', 'score': 0.39}]
chr15 GH15I090173 90173118 90173827 0.31 [{'connected_gene': 'SEMA4B', 'score': 11.58}, {'connected_gene': 'IDH2', 'score': 5.7}, {'connected_gene': 'GC15P090181', 'score': 0.44}, {'connected_gene': 'RN7SL346P', 'score': 0.44}]
chr15 GH15I090186 90186977 90195693 1.4 [{'connected_gene': 'SEMA4B', 'score': 22.1}, {'connected_gene': 'CIB1', 'score': 19.6}, {'connected_gene': 'FANCI', 'score': 12.22}, {'connected_gene': 'GDPGP1', 'score': 11.26}, {'connected_gene': 'NGRN', 'score': 11.06}, {'connected_gene': 'PRC1', 'score': 10.74}, {'connected_gene': 'IDH2', 'score': 6.14}, {'connected_gene': 'LOC105370969', 'score': 6.04}, {'connected_gene': 'TTLL13P', 'score': 5.71}, {'connected_gene': 'GC15M090188', 'score': 0.77}, {'connected_gene': 'RPS12P26', 'score': 0.37}]
chr15 GH15I090209 90209528 90215444 1.54 [{'connected_gene': 'SEMA4B', 'score': 26.7}, {'connected_gene': 'CIB1', 'score': 13.08}, {'connected_gene': 'GDPGP1', 'score': 11.82}, {'connected_gene': 'IDH2', 'score': 11.66}, {'connected_gene': 'NGRN', 'score': 11.16}, {'connected_gene': 'IQGAP1', 'score': 6.83}, {'connected_gene': 'ENSG00000228998', 'score': 5.61}, {'connected_gene': 'TTLL13P', 'score': 5.32}, {'connected_gene': 'RPS12P26', 'score': 0.44}, {'connected_gene': 'PIR48569', 'score': 0.34}]
chr15 GH15I090068 90068083 90068709 0.31 [{'connected_gene': 'PIR55871', 'score': 550.77}, {'connected_gene': 'ZNF710', 'score': 17.59}, {'connected_gene': 'IDH2', 'score': 11.07}, {'connected_gene': 'MESP1', 'score': 10.4}, {'connected_gene': 'ENSG00000276376', 'score': 0.44}]
chr15 GH15I090066 90066601 90067455 0.71 [{'connected_gene': 'PIR55871', 'score': 550.77}, {'connected_gene': 'ZNF710', 'score': 17.59}, {'connected_gene': 'IDH2', 'score': 11.05}, {'connected_gene': 'MESP1', 'score': 10.4}, {'connected_gene': 'ENSG00000273691', 'score': 0.26}]
chr15 GH15I090089 90089417 90092250 0.46 [{'connected_gene': 'GC15P090091', 'score': 550.77}, {'connected_gene': 'PIR40514', 'score': 550.77}, {'connected_gene': 'IDH2', 'score': 29.16}, {'connected_gene': 'ZNF710', 'score': 11.18}, {'connected_gene': 'NGRN', 'score': 10.35}, {'connected_gene': 'GABARAPL3', 'score': 8.8}, {'connected_gene': 'ZNF774', 'score': 8.8}]
chr15 GH15I090092 90092737 90093452 0.54 [{'connected_gene': 'ENSG00000261478', 'score': 10.72}, {'connected_gene': 'IDH2', 'score': 7.31}, {'connected_gene': 'GC15P090091', 'score': 0.77}, {'connected_gene': 'PIR40514', 'score': 0.77}]
chr15 GH15I090078 90078017 90086502 0.6 [{'connected_gene': 'PIR52268', 'score': 550.77}, {'connected_gene': 'ZNF710-AS1', 'score': 550.77}, {'connected_gene': 'ZNF710', 'score': 16.65}, {'connected_gene': 'IDH2', 'score': 15.85}, {'connected_gene': 'MESP1', 'score': 10.66}, {'connected_gene': 'NGRN', 'score': 9.92}, {'connected_gene': 'GABARAPL3', 'score': 9.34}, {'connected_gene': 'ZNF774', 'score': 8.8}, {'connected_gene': 'MAN2A2', 'score': 4.7}, {'connected_gene': 'ENSG00000228998', 'score': 4.57}, {'connected_gene': 'LOC100631255', 'score': 4.36}, {'connected_gene': 'GC15P090091', 'score': 0.44}, {'connected_gene': 'PIR40514', 'score': 0.44}]
chr15 GH15I090141 90141488 90144189 1.42 [{'connected_gene': 'GC15M090124', 'score': 550.77}, {'connected_gene': 'CIB1', 'score': 12.21}, {'connected_gene': 'UNC45A', 'score': 11.56}, {'connected_gene': 'NGRN', 'score': 11.29}, {'connected_gene': 'GDPGP1', 'score': 11.0}, {'connected_gene': 'POLG', 'score': 10.35}, {'connected_gene': 'IDH2', 'score': 9.2}, {'connected_gene': 'TTLL13P', 'score': 7.58}, {'connected_gene': 'SEMA4B', 'score': 7.16}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.