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
ENST00000584208 [[73008764, 73008967], [73013172, 73013209], [73015794, 73015854], [73016407, 73016490], [73016561, 73016752], [73017015, 73017034]] [[73008781, 73008967], [73013172, 73013209], [73015794, 73015854], [73016407, 73016490], [73016561, 73016752], [73017015, 73017034]]
ENST00000301585 [[73008768, 73008967], [73013172, 73013209], [73015794, 73015854], [73016407, 73016490], [73016582, 73016752], [73017015, 73017356]] [[73008781, 73008967], [73013172, 73013209], [73015794, 73015854], [73016407, 73016490], [73016582, 73016752], [73017015, 73017100]]
ENST00000580800 [[73008831, 73008967], [73013172, 73013209], [73014680, 73014789], [73015794, 73015854], [73016407, 73016490], [73016582, 73016670]] [[73008831, 73008967], [73013172, 73013209], [73014680, 73014721]]
ENST00000583772 [[73016323, 73016490], [73016582, 73016752], [73017015, 73017356]] None
NM_001303265 [[73008758, 73008967], [73013172, 73013209], [73015794, 73015854], [73016407, 73016490], [73016582, 73016752], [73017020, 73017356]] [[73008781, 73008967], [73013172, 73013209], [73015794, 73015854], [73016407, 73016490], [73016582, 73016752], [73017020, 73017174]]
NM_001545 [[73008758, 73008967], [73013172, 73013209], [73015794, 73015854], [73016407, 73016490], [73016582, 73016752], [73017015, 73017356]] [[73008781, 73008967], [73013172, 73013209], [73015794, 73015854], [73016407, 73016490], [73016582, 73016752], [73017015, 73017100]]
Promoter
Chrom Start End Description
chr17 73008755 73008783 CAGE_peak_1_at_ICT1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I075085 75085525 75097466 2.76 [{'connected_gene': 'SLC16A5', 'score': 563.68}, {'connected_gene': 'GC17M075090', 'score': 550.77}, {'connected_gene': 'ENSG00000206713', 'score': 550.77}, {'connected_gene': 'NUP85', 'score': 85.7}, {'connected_gene': 'UNK', 'score': 85.26}, {'connected_gene': 'NT5C', 'score': 69.68}, {'connected_gene': 'ENSG00000266980', 'score': 61.69}, {'connected_gene': 'ENSG00000267342', 'score': 59.02}, {'connected_gene': 'GGA3', 'score': 58.77}, {'connected_gene': 'NAT9', 'score': 52.3}, {'connected_gene': 'TRIM65', 'score': 31.32}, {'connected_gene': 'RN7SL573P', 'score': 22.63}, {'connected_gene': 'SAP30BP', 'score': 19.54}, {'connected_gene': 'CDK3', 'score': 19.21}, {'connected_gene': 'MGC16275', 'score': 14.01}, {'connected_gene': 'HID1', 'score': 12.28}, {'connected_gene': 'FBF1', 'score': 11.0}, {'connected_gene': 'MIF4GD', 'score': 10.95}, {'connected_gene': 'SUMO2', 'score': 10.5}, {'connected_gene': 'SRP68', 'score': 10.39}, {'connected_gene': 'ENSG00000267801', 'score': 10.33}, {'connected_gene': 'ENSG00000270993', 'score': 10.05}, {'connected_gene': 'RECQL5', 'score': 9.78}, {'connected_gene': 'MRPS7', 'score': 7.39}, {'connected_gene': 'MRPL58', 'score': 6.29}, {'connected_gene': 'MYO15B', 'score': 6.06}, {'connected_gene': 'LOC100287042', 'score': 5.66}, {'connected_gene': 'ATP5PD', 'score': 5.45}, {'connected_gene': 'TSEN54', 'score': 5.34}, {'connected_gene': 'ARMC7', 'score': 4.99}, {'connected_gene': 'CDR2L', 'score': 4.94}, {'connected_gene': 'SMIM6', 'score': 4.79}, {'connected_gene': 'KCTD2', 'score': 4.7}, {'connected_gene': 'LLGL2', 'score': 2.17}]
chr17 GH17I075083 75083706 75084647 1.35 [{'connected_gene': 'SLC16A5', 'score': 8.49}, {'connected_gene': 'MRPL58', 'score': 5.06}, {'connected_gene': 'TRIM80P', 'score': 0.44}]
chr17 GH17I075123 75123479 75126401 1.67 [{'connected_gene': 'NUP85', 'score': 15.42}, {'connected_gene': 'JPT1', 'score': 12.68}, {'connected_gene': 'NT5C', 'score': 11.68}, {'connected_gene': 'ATP5PD', 'score': 11.11}, {'connected_gene': 'KCTD2', 'score': 11.09}, {'connected_gene': 'MRPL58', 'score': 6.86}, {'connected_gene': 'MRPS7', 'score': 5.58}, {'connected_gene': 'TSEN54', 'score': 4.33}, {'connected_gene': 'SLC16A5', 'score': 1.72}, {'connected_gene': 'CD300LF', 'score': 1.51}, {'connected_gene': 'GRB2', 'score': 1.4}, {'connected_gene': 'PIR57447', 'score': 0.77}, {'connected_gene': 'ENSG00000279035', 'score': 0.44}, {'connected_gene': 'ARMC7', 'score': 0.39}]
chr17 GH17I075127 75127060 75127950 0.65 [{'connected_gene': 'NUP85', 'score': 16.35}, {'connected_gene': 'JPT1', 'score': 12.68}, {'connected_gene': 'ATP5PD', 'score': 11.1}, {'connected_gene': 'KCTD2', 'score': 11.09}, {'connected_gene': 'MRPL58', 'score': 6.43}, {'connected_gene': 'ENSG00000279035', 'score': 0.77}, {'connected_gene': 'PIR57447', 'score': 0.44}, {'connected_gene': 'ARMC7', 'score': 0.37}]
chr17 GH17I075137 75137374 75137714 0.42 [{'connected_gene': 'NUP85', 'score': 15.02}, {'connected_gene': 'JPT1', 'score': 12.29}, {'connected_gene': 'ATP5PD', 'score': 10.5}, {'connected_gene': 'KCTD2', 'score': 10.49}, {'connected_gene': 'CDR2L', 'score': 9.56}, {'connected_gene': 'MRPL58', 'score': 4.76}, {'connected_gene': 'ENSG00000265800', 'score': 0.77}, {'connected_gene': 'NT5C', 'score': 0.44}]
chr17 GH17I074437 74437648 74438372 0.74 [{'connected_gene': 'NUP85', 'score': 16.94}, {'connected_gene': 'GGA3', 'score': 14.62}, {'connected_gene': 'NT5C', 'score': 13.92}, {'connected_gene': 'CD300A', 'score': 11.53}, {'connected_gene': 'CD300LD', 'score': 10.2}, {'connected_gene': 'CD300E', 'score': 10.14}, {'connected_gene': 'NAT9', 'score': 9.72}, {'connected_gene': 'MRPL58', 'score': 5.14}, {'connected_gene': 'GC17M074409', 'score': 0.77}, {'connected_gene': 'GPRC5C', 'score': 0.39}]
chr17 GH17I074426 74426395 74434855 2.7 [{'connected_gene': 'GPRC5C', 'score': 568.65}, {'connected_gene': 'NAT9', 'score': 18.85}, {'connected_gene': 'RN7SL573P', 'score': 13.31}, {'connected_gene': 'NUP85', 'score': 10.97}, {'connected_gene': 'MRPL58', 'score': 4.35}, {'connected_gene': 'DNAI2', 'score': 1.85}, {'connected_gene': 'GC17M074409', 'score': 0.44}]
chr17 GH17I074336 74336246 74346305 0.75 [{'connected_gene': 'GPR142', 'score': 17.55}, {'connected_gene': 'CD300LB', 'score': 11.12}, {'connected_gene': 'CD300C', 'score': 11.12}, {'connected_gene': 'ENSG00000236770', 'score': 11.11}, {'connected_gene': 'CD300A', 'score': 10.95}, {'connected_gene': 'MGC16275', 'score': 10.62}, {'connected_gene': 'TTYH2', 'score': 10.62}, {'connected_gene': 'RPL38', 'score': 10.62}, {'connected_gene': 'MRPL58', 'score': 5.11}, {'connected_gene': 'KIF19', 'score': 0.37}, {'connected_gene': 'BTBD17', 'score': 0.34}]
chr17 GH17I075003 75003392 75003654 0.31 [{'connected_gene': 'OTOP3', 'score': 11.06}, {'connected_gene': 'KCTD2', 'score': 10.53}, {'connected_gene': 'ATP5PD', 'score': 10.48}, {'connected_gene': 'MRPL58', 'score': 6.88}, {'connected_gene': 'PIR50215', 'score': 0.77}, {'connected_gene': 'GC17M075008', 'score': 0.44}, {'connected_gene': 'CDR2L', 'score': 0.37}]
chr17 GH17I075010 75010330 75014074 2.58 [{'connected_gene': 'MRPL58', 'score': 560.74}, {'connected_gene': 'UNK', 'score': 28.73}, {'connected_gene': 'GGA3', 'score': 26.93}, {'connected_gene': 'HID1', 'score': 22.57}, {'connected_gene': 'NUP85', 'score': 21.27}, {'connected_gene': 'CDK3', 'score': 20.51}, {'connected_gene': 'NT5C', 'score': 19.52}, {'connected_gene': 'ENSG00000266980', 'score': 16.01}, {'connected_gene': 'KCTD2', 'score': 15.39}, {'connected_gene': 'CDR2L', 'score': 14.97}, {'connected_gene': 'FADS6', 'score': 12.25}, {'connected_gene': 'RECQL5', 'score': 11.92}, {'connected_gene': 'ENSG00000267342', 'score': 11.67}, {'connected_gene': 'SAP30BP', 'score': 11.55}, {'connected_gene': 'ATP5PD', 'score': 11.37}, {'connected_gene': 'TRIM65', 'score': 11.27}, {'connected_gene': 'NAT9', 'score': 9.78}, {'connected_gene': 'RAB37', 'score': 7.03}, {'connected_gene': 'GRIN2C', 'score': 6.22}, {'connected_gene': 'ARMC7', 'score': 4.93}, {'connected_gene': 'SUMO2', 'score': 3.59}, {'connected_gene': 'GC17M075008', 'score': 0.77}]
chr17 GH17I074984 74984983 74986263 0.69 [{'connected_gene': 'MRPL58', 'score': 5.52}, {'connected_gene': 'HID1', 'score': 5.32}, {'connected_gene': 'GC17P074982', 'score': 0.77}, {'connected_gene': 'CDR2L', 'score': 0.77}]
chr17 GH17I075020 75020090 75021062 0.77 [{'connected_gene': 'CDR2L', 'score': 16.74}, {'connected_gene': 'HID1', 'score': 12.66}, {'connected_gene': 'ATP5PD', 'score': 11.9}, {'connected_gene': 'OTOP3', 'score': 11.27}, {'connected_gene': 'MRPL58', 'score': 7.25}, {'connected_gene': 'MYO15B', 'score': 5.72}, {'connected_gene': 'GC17M075029', 'score': 0.44}]
chr17 GH17I075130 75130158 75132732 2.24 [{'connected_gene': 'NT5C', 'score': 562.94}, {'connected_gene': 'ENSG00000279035', 'score': 550.77}, {'connected_gene': 'NUP85', 'score': 16.09}, {'connected_gene': 'MRPL58', 'score': 6.18}, {'connected_gene': 'ARMC7', 'score': 0.34}]
chr17 GH17I075102 75102086 75102784 0.82 [{'connected_gene': 'TSEN54', 'score': 11.44}, {'connected_gene': 'ARMC7', 'score': 11.15}, {'connected_gene': 'MRPL58', 'score': 5.14}, {'connected_gene': 'CDR2L', 'score': 4.36}, {'connected_gene': 'GC17M075090', 'score': 0.39}, {'connected_gene': 'ENSG00000206713', 'score': 0.39}, {'connected_gene': 'SLC16A5', 'score': 0.39}]
chr17 GH17I074960 74960466 74962001 1.4 [{'connected_gene': 'TSEN54', 'score': 14.34}, {'connected_gene': 'ARMC7', 'score': 10.82}, {'connected_gene': 'HID1', 'score': 10.19}, {'connected_gene': 'MRPL58', 'score': 5.2}, {'connected_gene': 'GC17M074966', 'score': 0.44}, {'connected_gene': 'OTOP3', 'score': 0.31}]
chr17 GH17I074974 74974377 74975652 0.63 [{'connected_gene': 'HID1', 'score': 550.77}, {'connected_gene': 'OTOP3', 'score': 11.62}, {'connected_gene': 'MRPL58', 'score': 11.55}, {'connected_gene': 'RNU6-362P', 'score': 11.18}, {'connected_gene': 'FADS6', 'score': 11.12}, {'connected_gene': 'FDXR', 'score': 11.09}, {'connected_gene': 'KCTD2', 'score': 10.48}, {'connected_gene': 'ATP5PD', 'score': 10.45}, {'connected_gene': 'HID1-AS1', 'score': 0.77}, {'connected_gene': 'GC17P074982', 'score': 0.44}]
chr17 GH17I075018 75018636 75019013 0.88 [{'connected_gene': 'HID1', 'score': 14.0}, {'connected_gene': 'CDR2L', 'score': 11.76}, {'connected_gene': 'ATP5PD', 'score': 11.39}, {'connected_gene': 'MRPL58', 'score': 7.44}, {'connected_gene': 'GC17M075029', 'score': 0.39}]
chr17 GH17I074989 74989929 74993991 1.18 [{'connected_gene': 'HID1', 'score': 14.42}, {'connected_gene': 'RNU6-362P', 'score': 11.19}, {'connected_gene': 'OTOP3', 'score': 11.05}, {'connected_gene': 'KCTD2', 'score': 10.78}, {'connected_gene': 'ATP5PD', 'score': 10.74}, {'connected_gene': 'FADS6', 'score': 10.58}, {'connected_gene': 'MRPL58', 'score': 5.54}, {'connected_gene': 'CDR2L', 'score': 0.77}, {'connected_gene': 'GC17M074998', 'score': 0.44}]
chr17 GH17I074435 74435128 74437295 1.21 [{'connected_gene': 'CD300A', 'score': 11.3}, {'connected_gene': 'GPR142', 'score': 11.01}, {'connected_gene': 'CD300E', 'score': 9.83}, {'connected_gene': 'MRPL58', 'score': 5.43}, {'connected_gene': 'GC17M074409', 'score': 0.77}, {'connected_gene': 'GPRC5C', 'score': 0.39}]
chr17 GH17I075025 75025401 75025600 0.54 [{'connected_gene': 'ATP5PD', 'score': 18.51}, {'connected_gene': 'CDR2L', 'score': 11.92}, {'connected_gene': 'GC17M075029', 'score': 0.77}, {'connected_gene': 'MRPL58', 'score': 0.39}]
chr17 GH17I075118 75118050 75119553 0.46 [{'connected_gene': 'GC17P075119', 'score': 550.77}, {'connected_gene': 'PIR52086', 'score': 550.77}, {'connected_gene': 'NT5C', 'score': 12.14}, {'connected_gene': 'JPT1', 'score': 11.97}, {'connected_gene': 'ATP5PD', 'score': 10.78}, {'connected_gene': 'KCTD2', 'score': 10.75}, {'connected_gene': 'MRPL58', 'score': 6.0}, {'connected_gene': 'LOC100287042', 'score': 4.62}, {'connected_gene': 'PIR57447', 'score': 0.77}, {'connected_gene': 'ARMC7', 'score': 0.44}]
chr17 GH17I075007 75007447 75008791 0.67 [{'connected_gene': 'GC17M075008', 'score': 550.77}, {'connected_gene': 'ATP5PD', 'score': 17.65}, {'connected_gene': 'CDR2L', 'score': 12.53}, {'connected_gene': 'KCTD2', 'score': 11.68}, {'connected_gene': 'RNU6-362P', 'score': 11.62}, {'connected_gene': 'FADS6', 'score': 10.77}, {'connected_gene': 'MRPL58', 'score': 9.78}, {'connected_gene': 'PIR50215', 'score': 0.44}]
chr17 GH17I075031 75031746 75037495 2.11 [{'connected_gene': 'GC17P075034', 'score': 550.77}, {'connected_gene': 'TRR-CCT2-1', 'score': 550.77}, {'connected_gene': 'GC17M075035', 'score': 550.77}, {'connected_gene': 'GC17P075036', 'score': 550.77}, {'connected_gene': 'TRR-CCT1-1', 'score': 550.77}, {'connected_gene': 'TRR-TCG3-1', 'score': 550.77}, {'connected_gene': 'NUP85', 'score': 97.38}, {'connected_gene': 'UNK', 'score': 83.79}, {'connected_gene': 'NT5C', 'score': 76.5}, {'connected_gene': 'GGA3', 'score': 69.66}, {'connected_gene': 'ENSG00000266980', 'score': 68.33}, {'connected_gene': 'TRIM65', 'score': 52.18}, {'connected_gene': 'ENSG00000267342', 'score': 50.0}, {'connected_gene': 'NAT9', 'score': 38.06}, {'connected_gene': 'RN7SL573P', 'score': 30.97}, {'connected_gene': 'LOC101928343', 'score': 21.73}, {'connected_gene': 'CDK3', 'score': 21.11}, {'connected_gene': 'KCTD2', 'score': 15.93}, {'connected_gene': 'ATP5PD', 'score': 15.53}, {'connected_gene': 'MYO15B', 'score': 12.2}, {'connected_gene': 'TSEN54', 'score': 11.83}, {'connected_gene': 'HID1', 'score': 11.43}, {'connected_gene': 'SAP30BP', 'score': 10.8}, {'connected_gene': 'CDR2L', 'score': 10.51}, {'connected_gene': 'SUMO2', 'score': 10.45}, {'connected_gene': 'TMEM94', 'score': 10.35}, {'connected_gene': 'SLC16A5', 'score': 10.32}, {'connected_gene': 'SLC25A19', 'score': 10.09}, {'connected_gene': 'MRPL58', 'score': 5.38}]

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