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
ENST00000254940 [[69373332, 69373788], [69373908, 69373995], [69374096, 69374235], [69375082, 69375223], [69375435, 69377014]] [[69373732, 69373788], [69373908, 69373995], [69374096, 69374235], [69375082, 69375223], [69375435, 69375555]]
ENST00000569637 [[69373470, 69373788], [69373908, 69373995], [69374096, 69374790]] [[69373732, 69373788], [69373908, 69373995], [69374096, 69374286]]
ENST00000254941 [[69373699, 69373788], [69373908, 69373995], [69374096, 69374235], [69375435, 69377007]] [[69373732, 69373788], [69373908, 69373995], [69374096, 69374235], [69375435, 69375555]]
ENST00000565034 [[69373732, 69373788], [69373908, 69374235], [69375082, 69375338]] None
ENST00000563364 [[69373829, 69373995], [69374096, 69374235], [69375082, 69375213]] None
ENST00000562131 [[69373895, 69373995], [69374096, 69374568]] None
ENST00000567202 [[69374173, 69374235], [69375082, 69375223], [69375514, 69375957]] [[69374173, 69374235], [69375082, 69375223], [69375514, 69375550]]
ENST00000562523 [[69374178, 69374235], [69375082, 69375223], [69375413, 69375975]] [[69374178, 69374235], [69375082, 69375223], [69375413, 69375428]]
NM_001199434 [[69373414, 69373788], [69373908, 69373995], [69374096, 69374235], [69375435, 69377014]] [[69373732, 69373788], [69373908, 69373995], [69374096, 69374235], [69375435, 69375555]]
NM_016101 [[69373414, 69373788], [69373908, 69373995], [69374096, 69374235], [69375082, 69375223], [69375435, 69377014]] [[69373732, 69373788], [69373908, 69373995], [69374096, 69374235], [69375082, 69375223], [69375435, 69375555]]
Promoter
Chrom Start End Description
chr16 69373323 69373371 CAGE_peak_7_at_NIP7_5end
chr16 69373529 69373601 CAGE_peak_2_at_NIP7_5end
chr16 69373661 69373711 CAGE_peak_1_at_NIP7_5end
chr16 69373720 69373725 CAGE_peak_4_at_NIP7_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I069393 69393655 69401031 1.72 [{'connected_gene': 'UTP4', 'score': 19.7}, {'connected_gene': 'CYB5B', 'score': 12.6}, {'connected_gene': 'NIP7', 'score': 12.41}, {'connected_gene': 'NFAT5', 'score': 11.87}, {'connected_gene': 'MIR1538', 'score': 11.87}, {'connected_gene': 'NQO1', 'score': 10.69}, {'connected_gene': 'TERF2', 'score': 1.7}, {'connected_gene': 'GC16M069470', 'score': 0.77}]
chr16 GH16I069384 69384127 69386607 2.26 [{'connected_gene': 'TERF2', 'score': 550.34}, {'connected_gene': 'UTP4', 'score': 19.98}, {'connected_gene': 'NIP7', 'score': 12.3}, {'connected_gene': 'TMED6', 'score': 6.09}, {'connected_gene': 'GC16M069470', 'score': 0.44}, {'connected_gene': 'PIR63038', 'score': 0.34}]
chr16 GH16I069372 69372823 69373760 0.2 [{'connected_gene': 'TERF2', 'score': 13.78}, {'connected_gene': 'TMED6', 'score': 12.43}, {'connected_gene': 'NIP7', 'score': 12.38}, {'connected_gene': 'PIR63038', 'score': 0.44}, {'connected_gene': 'GC16M069470', 'score': 0.37}]
chr16 GH16I069402 69402423 69413932 1.74 [{'connected_gene': 'TERF2', 'score': 562.49}, {'connected_gene': 'NFAT5', 'score': 89.2}, {'connected_gene': 'PDPR', 'score': 73.75}, {'connected_gene': 'PDXDC2P-NPIPB14P', 'score': 61.96}, {'connected_gene': 'NONOP1', 'score': 60.65}, {'connected_gene': 'LOC400541', 'score': 59.91}, {'connected_gene': 'PDXDC2P', 'score': 57.12}, {'connected_gene': 'NPIPB14P', 'score': 55.13}, {'connected_gene': 'DDX19A', 'score': 55.06}, {'connected_gene': 'SNTB2', 'score': 37.03}, {'connected_gene': 'CHTF8', 'score': 32.24}, {'connected_gene': 'EXOSC6', 'score': 29.86}, {'connected_gene': 'AARS', 'score': 28.78}, {'connected_gene': 'ZFP90', 'score': 27.94}, {'connected_gene': 'DDX19B', 'score': 26.85}, {'connected_gene': 'LOC100506083', 'score': 26.8}, {'connected_gene': 'UTP4', 'score': 23.68}, {'connected_gene': 'TMED6', 'score': 18.96}, {'connected_gene': 'MIR1538', 'score': 11.19}, {'connected_gene': 'NIP7', 'score': 11.11}, {'connected_gene': 'NQO1', 'score': 10.19}, {'connected_gene': 'NOB1', 'score': 9.72}, {'connected_gene': 'WWP2', 'score': 9.55}, {'connected_gene': 'ENSG00000252443', 'score': 9.55}, {'connected_gene': 'CYB5B', 'score': 6.12}, {'connected_gene': 'CLEC18A', 'score': 4.86}, {'connected_gene': 'CLEC18C', 'score': 4.46}, {'connected_gene': 'SMG1P7', 'score': 4.31}, {'connected_gene': 'GC16M069470', 'score': 0.37}]
chr16 GH16I069756 69756674 69757597 0.66 [{'connected_gene': 'NONOP1', 'score': 550.77}, {'connected_gene': 'ENSG00000252443', 'score': 11.58}, {'connected_gene': 'NPIPB14P', 'score': 7.82}, {'connected_gene': 'LOC100506083', 'score': 5.14}, {'connected_gene': 'NOB1', 'score': 2.22}, {'connected_gene': 'PDF', 'score': 1.98}, {'connected_gene': 'NIP7', 'score': 1.56}]
chr16 GH16I069130 69130077 69133947 2.07 [{'connected_gene': 'CHTF8', 'score': 574.6}, {'connected_gene': 'UTP4', 'score': 550.77}, {'connected_gene': 'SNTB2', 'score': 42.48}, {'connected_gene': 'PDPR', 'score': 39.43}, {'connected_gene': 'NFAT5', 'score': 39.4}, {'connected_gene': 'NONOP1', 'score': 34.19}, {'connected_gene': 'PDXDC2P-NPIPB14P', 'score': 23.21}, {'connected_gene': 'NPIPB14P', 'score': 22.79}, {'connected_gene': 'PDXDC2P', 'score': 20.99}, {'connected_gene': 'RNU6-22P', 'score': 12.03}, {'connected_gene': 'ENSG00000263276', 'score': 11.83}, {'connected_gene': 'NIP7', 'score': 11.04}, {'connected_gene': 'ENSG00000200164', 'score': 10.83}, {'connected_gene': 'PRMT7', 'score': 10.59}, {'connected_gene': 'ENSG00000260891', 'score': 10.19}, {'connected_gene': 'NOB1', 'score': 9.7}, {'connected_gene': 'TMED6', 'score': 7.85}]
chr16 GH16I069070 69070926 69074483 1.31 [{'connected_gene': 'PRMT7', 'score': 54.05}, {'connected_gene': 'NFAT5', 'score': 26.44}, {'connected_gene': 'NONOP1', 'score': 25.06}, {'connected_gene': 'SNTB2', 'score': 23.03}, {'connected_gene': 'ZFP90', 'score': 22.4}, {'connected_gene': 'ENSG00000259797', 'score': 21.01}, {'connected_gene': 'CHTF8', 'score': 20.3}, {'connected_gene': 'ENSG00000263276', 'score': 11.23}, {'connected_gene': 'NIP7', 'score': 10.87}, {'connected_gene': 'ENSG00000260891', 'score': 10.63}, {'connected_gene': 'NFATC3', 'score': 10.44}, {'connected_gene': 'SLC7A6OS', 'score': 10.24}, {'connected_gene': 'PDXDC2P-NPIPB14P', 'score': 9.86}, {'connected_gene': 'CDH1', 'score': 5.66}, {'connected_gene': 'CYB5B', 'score': 4.24}, {'connected_gene': 'HAS3', 'score': 0.29}, {'connected_gene': 'RPS2P45', 'score': 0.28}, {'connected_gene': 'TANGO6', 'score': 0.07}]
chr16 GH16I069338 69338191 69341387 2.11 [{'connected_gene': 'NIP7', 'score': 572.31}, {'connected_gene': 'PIR44456', 'score': 550.77}, {'connected_gene': 'COG8', 'score': 550.77}, {'connected_gene': 'SNTB2', 'score': 34.65}, {'connected_gene': 'NONOP1', 'score': 29.05}, {'connected_gene': 'LOC400541', 'score': 27.53}, {'connected_gene': 'CHTF8', 'score': 26.07}, {'connected_gene': 'NFAT5', 'score': 25.69}, {'connected_gene': 'DDX19B', 'score': 25.38}, {'connected_gene': 'PDXDC2P-NPIPB14P', 'score': 22.58}, {'connected_gene': 'PDPR', 'score': 22.41}, {'connected_gene': 'PDXDC2P', 'score': 20.47}, {'connected_gene': 'UTP4', 'score': 19.94}, {'connected_gene': 'NPIPB14P', 'score': 19.92}, {'connected_gene': 'EXOSC6', 'score': 10.56}, {'connected_gene': 'TMED6', 'score': 6.1}, {'connected_gene': 'ENSG00000259900', 'score': 0.39}, {'connected_gene': 'ENSG00000260371', 'score': 0.37}]
chr16 GH16I069367 69367786 69368585 0.71 [{'connected_gene': 'NIP7', 'score': 24.86}, {'connected_gene': 'TERF2', 'score': 12.15}, {'connected_gene': 'SNTB2', 'score': 9.75}, {'connected_gene': 'PIR63038', 'score': 0.77}, {'connected_gene': 'GC16M069470', 'score': 0.34}]
chr16 GH16I069379 69379867 69383125 0.63 [{'connected_gene': 'NIP7', 'score': 23.45}, {'connected_gene': 'TMED6', 'score': 18.69}, {'connected_gene': 'CYB5B', 'score': 11.22}, {'connected_gene': 'WWP2', 'score': 9.62}, {'connected_gene': 'ENSG00000252443', 'score': 9.62}, {'connected_gene': 'GC16M069470', 'score': 0.39}, {'connected_gene': 'PIR63038', 'score': 0.37}, {'connected_gene': 'TERF2', 'score': 0.31}]
chr16 GH16I069310 69310298 69312582 2.25 [{'connected_gene': 'VPS4A', 'score': 550.77}, {'connected_gene': 'SNTB2', 'score': 24.32}, {'connected_gene': 'LOC400541', 'score': 22.31}, {'connected_gene': 'PDPR', 'score': 21.65}, {'connected_gene': 'UTP4', 'score': 19.91}, {'connected_gene': 'DDX19B', 'score': 16.65}, {'connected_gene': 'CHTF8', 'score': 15.87}, {'connected_gene': 'NONOP1', 'score': 12.66}, {'connected_gene': 'PDXDC2P-NPIPB14P', 'score': 12.3}, {'connected_gene': 'NFAT5', 'score': 11.64}, {'connected_gene': 'PDXDC2P', 'score': 11.47}, {'connected_gene': 'NIP7', 'score': 11.27}, {'connected_gene': 'EXOSC6', 'score': 10.56}, {'connected_gene': 'NPIPB14P', 'score': 10.18}, {'connected_gene': 'PIR42936', 'score': 0.44}, {'connected_gene': 'ENSG00000260914', 'score': 0.39}]
chr16 GH16I069721 69721647 69728856 2.54 [{'connected_gene': 'NQO1', 'score': 555.37}, {'connected_gene': 'ENSG00000262136', 'score': 550.77}, {'connected_gene': 'SNTB2', 'score': 20.31}, {'connected_gene': 'SF3B3', 'score': 19.31}, {'connected_gene': 'DDX19A', 'score': 14.16}, {'connected_gene': 'NONOP1', 'score': 12.37}, {'connected_gene': 'CHTF8', 'score': 11.93}, {'connected_gene': 'NPIPB14P', 'score': 11.82}, {'connected_gene': 'UTP4', 'score': 11.23}, {'connected_gene': 'PDPR', 'score': 11.16}, {'connected_gene': 'NIP7', 'score': 11.14}, {'connected_gene': 'WWP2', 'score': 11.04}, {'connected_gene': 'ENSG00000252443', 'score': 10.97}, {'connected_gene': 'NFAT5', 'score': 10.9}, {'connected_gene': 'DDX19B', 'score': 9.66}, {'connected_gene': 'PDXDC2P-NPIPB14P', 'score': 8.88}, {'connected_gene': 'CLEC18A', 'score': 7.58}, {'connected_gene': 'PDXDC2P', 'score': 6.79}, {'connected_gene': 'GC16M069712', 'score': 0.44}]
chr16 GH16I070250 70250200 70252867 2.09 [{'connected_gene': 'EXOSC6', 'score': 619.66}, {'connected_gene': 'COG4', 'score': 31.12}, {'connected_gene': 'DDX19B', 'score': 28.21}, {'connected_gene': 'NONOP1', 'score': 24.88}, {'connected_gene': 'SF3B3', 'score': 23.48}, {'connected_gene': 'PDPR', 'score': 23.11}, {'connected_gene': 'NFAT5', 'score': 21.92}, {'connected_gene': 'PDXDC2P-NPIPB14P', 'score': 20.57}, {'connected_gene': 'PDXDC2P', 'score': 19.51}, {'connected_gene': 'NPIPB14P', 'score': 19.11}, {'connected_gene': 'LOC400541', 'score': 18.9}, {'connected_gene': 'HYDIN', 'score': 13.16}, {'connected_gene': 'LOC100506083', 'score': 12.45}, {'connected_gene': 'NIP7', 'score': 10.99}, {'connected_gene': 'AARS', 'score': 10.93}, {'connected_gene': 'SMG1P7', 'score': 0.77}]
chr16 GH16I069528 69528894 69533519 1.57 [{'connected_gene': 'NFAT5', 'score': 23.32}, {'connected_gene': 'NPIPB14P', 'score': 13.87}, {'connected_gene': 'MIR1538', 'score': 12.52}, {'connected_gene': 'NONOP1', 'score': 12.16}, {'connected_gene': 'SNTB2', 'score': 12.12}, {'connected_gene': 'CHTF8', 'score': 11.95}, {'connected_gene': 'CYB5B', 'score': 11.33}, {'connected_gene': 'NIP7', 'score': 11.18}, {'connected_gene': 'SF3B3', 'score': 10.61}, {'connected_gene': 'DDX19B', 'score': 9.66}, {'connected_gene': 'PDXDC2P', 'score': 6.75}, {'connected_gene': 'CLEC18A', 'score': 4.72}, {'connected_gene': 'LOC100506083', 'score': 4.7}, {'connected_gene': 'WWP2', 'score': 2.23}, {'connected_gene': 'LOC105371325', 'score': 0.44}]
chr16 GH16I069325 69325747 69328040 1.1 [{'connected_gene': 'PIR53878', 'score': 550.77}, {'connected_gene': 'PIR31148', 'score': 550.77}, {'connected_gene': 'PIR53140', 'score': 550.77}, {'connected_gene': 'GC16M069465', 'score': 550.77}, {'connected_gene': 'PIR50457', 'score': 550.77}, {'connected_gene': 'PIR43287', 'score': 550.77}, {'connected_gene': 'UTP4', 'score': 29.2}, {'connected_gene': 'TMED6', 'score': 17.99}, {'connected_gene': 'NIP7', 'score': 10.04}, {'connected_gene': 'CHTF8', 'score': 9.91}, {'connected_gene': 'PIR46379', 'score': 0.77}, {'connected_gene': 'COG8', 'score': 0.39}, {'connected_gene': 'VPS4A', 'score': 0.37}]
chr16 GH16I069204 69204201 69204927 0.69 [{'connected_gene': 'GC16M069203', 'score': 550.77}, {'connected_gene': 'SNTB2', 'score': 8.78}, {'connected_gene': 'NIP7', 'score': 4.35}, {'connected_gene': 'PIR60656', 'score': 0.44}, {'connected_gene': 'UTP4', 'score': 0.19}]
chr16 GH16I069217 69217166 69218120 1.01 [{'connected_gene': 'ENSG00000200164', 'score': 11.65}, {'connected_gene': 'SNTB2', 'score': 11.64}, {'connected_gene': 'NIP7', 'score': 10.79}, {'connected_gene': 'TMED6', 'score': 10.78}, {'connected_gene': 'PIR60656', 'score': 0.44}, {'connected_gene': 'ENSG00000265113', 'score': 0.34}, {'connected_gene': 'UTP4', 'score': 0.17}]
chr16 GH16I069328 69328291 69331629 2.06 [{'connected_gene': 'PIR46379', 'score': 550.77}, {'connected_gene': 'PDF', 'score': 550.77}, {'connected_gene': 'UTP4', 'score': 17.55}, {'connected_gene': 'SNTB2', 'score': 12.86}, {'connected_gene': 'NIP7', 'score': 12.8}, {'connected_gene': 'TMED6', 'score': 6.71}, {'connected_gene': 'PIR53878', 'score': 0.77}, {'connected_gene': 'COG8', 'score': 0.44}]
chr16 GH16I069390 69390577 69391509 0.2 [{'connected_gene': 'GC16M069470', 'score': 550.77}, {'connected_gene': 'NIP7', 'score': 12.29}, {'connected_gene': 'TERF2', 'score': 0.37}, {'connected_gene': 'PIR63038', 'score': 0.31}]
chr16 GH16I069317 69317951 69318026 0.47 [{'connected_gene': 'PIR42936', 'score': 550.77}, {'connected_gene': 'NIP7', 'score': 12.27}, {'connected_gene': 'TMED6', 'score': 12.22}, {'connected_gene': 'UTP4', 'score': 10.24}, {'connected_gene': 'CHTF8', 'score': 10.24}, {'connected_gene': 'VPS4A', 'score': 0.44}, {'connected_gene': 'ENSG00000260914', 'score': 0.37}]
chr16 GH16I069351 69351032 69352321 1.26 [{'connected_gene': 'ENSG00000259900', 'score': 550.77}, {'connected_gene': 'TMED6', 'score': 550.77}, {'connected_gene': 'SNTB2', 'score': 10.39}, {'connected_gene': 'NIP7', 'score': 4.18}, {'connected_gene': 'ENSG00000260371', 'score': 0.77}, {'connected_gene': 'PIR44456', 'score': 0.39}]

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