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
ENST00000374242 [[115446205, 115449913], [115451806, 115451897], [115456410, 115456513], [115478740, 115478821], [115480266, 115480516]] [[115449817, 115449913], [115451806, 115451897], [115456410, 115456513], [115478740, 115478765]]
ENST00000374238 [[115448796, 115449913], [115456410, 115456513], [115478740, 115478821], [115480266, 115480390]] [[115449783, 115449913], [115456410, 115456448]]
ENST00000497712 [[115449376, 115449913], [115451806, 115451897], [115456410, 115456513], [115464111, 115464160], [115478740, 115478821], [115480266, 115480369]] None
ENST00000374236 [[115449396, 115449913], [115451806, 115451897], [115456410, 115456513], [115480266, 115480429]] [[115449817, 115449913], [115451806, 115451897], [115456410, 115456448]]
ENST00000481146 [[115449411, 115449913], [115456410, 115456513], [115464067, 115464160], [115478740, 115478821], [115480266, 115480366]] None
ENST00000374234 [[115449424, 115449913], [115456410, 115456513], [115480266, 115480387]] [[115449783, 115449913], [115456410, 115456448]]
ENST00000476599 [[115456313, 115456513], [115478740, 115478821], [115480266, 115480397]] None
NM_001329588 [[115446227, 115449913], [115451806, 115451897], [115456410, 115456513], [115464067, 115464160], [115478740, 115478821], [115480266, 115480429]] [[115449817, 115449913], [115451806, 115451897], [115456410, 115456448]]
NR_138055 [[115446227, 115449913], [115456410, 115456513], [115464067, 115464160], [115478740, 115478821], [115480266, 115480429]] None
NM_001329585 [[115446227, 115449913], [115451806, 115451897], [115456410, 115456513], [115459718, 115459862], [115478740, 115478821], [115480266, 115480429]] [[115449817, 115449913], [115451806, 115451897], [115456410, 115456513], [115459718, 115459734]]
NM_021218 [[115446227, 115449913], [115451806, 115451897], [115456410, 115456513], [115478740, 115478821], [115480266, 115480429]] [[115449817, 115449913], [115451806, 115451897], [115456410, 115456513], [115478740, 115478765]]
NM_001329586 [[115446227, 115449913], [115456410, 115456513], [115478740, 115478821], [115480266, 115480429]] [[115449783, 115449913], [115456410, 115456513], [115478740, 115478765]]
NM_001329587 [[115446227, 115449913], [115451806, 115451897], [115478740, 115478821], [115480266, 115480429]] [[115449783, 115449913], [115451806, 115451897], [115478740, 115478765]]
NR_138054 [[115446227, 115449913], [115478740, 115478821], [115480266, 115480429]] None
NM_001329590 [[115446227, 115449913], [115451806, 115451897], [115456410, 115456513], [115464067, 115464160], [115480266, 115480429]] [[115449817, 115449913], [115451806, 115451897], [115456410, 115456448]]
NM_001329589 [[115446227, 115449913], [115451806, 115451897], [115456410, 115456513], [115480266, 115480429]] [[115449817, 115449913], [115451806, 115451897], [115456410, 115456448]]
NR_138056 [[115446227, 115449913], [115456410, 115456513], [115480266, 115480429]] None
Promoter
Chrom Start End Description
chr9 115480303 115480425 CAGE_peak_1_at_C9orf80_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I112554 112554741 112557606 0.9 [{'connected_gene': 'HSDL2', 'score': 14.62}, {'connected_gene': 'INIP', 'score': 10.1}, {'connected_gene': 'SNX30', 'score': 9.58}, {'connected_gene': 'ENSG00000226609', 'score': 9.58}, {'connected_gene': 'ENSG00000250068', 'score': 0.31}, {'connected_gene': 'PIR62708', 'score': 0.26}, {'connected_gene': 'KIAA1958', 'score': 0.2}]
chr9 GH09I112492 112492201 112493607 0.31 [{'connected_gene': 'HSDL2', 'score': 18.98}, {'connected_gene': 'INIP', 'score': 10.4}, {'connected_gene': 'SNX30', 'score': 9.6}, {'connected_gene': 'ENSG00000226609', 'score': 9.6}, {'connected_gene': 'C9orf147', 'score': 0.77}, {'connected_gene': 'KIAA1958', 'score': 0.44}, {'connected_gene': 'PIR62708', 'score': 0.34}]
chr9 GH09I112361 112361601 112361750 0.56 [{'connected_gene': 'RPL32P22', 'score': 550.77}, {'connected_gene': 'HSDL2', 'score': 12.61}, {'connected_gene': 'SUSD1', 'score': 10.2}, {'connected_gene': 'RPL29P20', 'score': 10.2}, {'connected_gene': 'INIP', 'score': 9.89}, {'connected_gene': 'GC09P112357', 'score': 0.77}]
chr9 GH09I112362 112361801 112362000 0.56 [{'connected_gene': 'RPL32P22', 'score': 550.77}, {'connected_gene': 'HSDL2', 'score': 12.61}, {'connected_gene': 'SUSD1', 'score': 10.2}, {'connected_gene': 'RPL29P20', 'score': 10.2}, {'connected_gene': 'INIP', 'score': 9.89}, {'connected_gene': 'GC09P112357', 'score': 0.77}]
chr9 GH09I112716 112716843 112718972 2.04 [{'connected_gene': 'INIP', 'score': 550.77}, {'connected_gene': 'PRPF4', 'score': 36.37}, {'connected_gene': 'FKBP15', 'score': 11.44}, {'connected_gene': 'CDC26', 'score': 10.46}, {'connected_gene': 'RPL32P22', 'score': 10.07}, {'connected_gene': 'PTBP3', 'score': 10.02}, {'connected_gene': 'GC09P112628', 'score': 0.17}]
chr9 GH09I112762 112761158 112761483 0.46 [{'connected_gene': 'INIP', 'score': 11.04}, {'connected_gene': 'ENSG00000226609', 'score': 6.2}, {'connected_gene': 'ZFP37', 'score': 2.06}, {'connected_gene': 'SNX30', 'score': 0.39}, {'connected_gene': 'PIR49803', 'score': 0.14}]
chr9 GH09I112495 112495474 112497000 1.26 [{'connected_gene': 'INIP', 'score': 10.09}, {'connected_gene': 'SUSD1', 'score': 1.81}, {'connected_gene': 'SNX30', 'score': 1.69}, {'connected_gene': 'PTBP3', 'score': 1.68}, {'connected_gene': 'C9orf147', 'score': 0.44}, {'connected_gene': 'KIAA1958', 'score': 0.44}, {'connected_gene': 'PIR62708', 'score': 0.37}]
chr9 GH09I112753 112753198 112757523 0.95 [{'connected_gene': 'INIP', 'score': 11.05}, {'connected_gene': 'SLC46A2', 'score': 9.67}, {'connected_gene': 'SNX30', 'score': 7.85}, {'connected_gene': 'ENSG00000271631', 'score': 4.68}, {'connected_gene': 'ENSG00000226609', 'score': 0.77}, {'connected_gene': 'PIR49803', 'score': 0.13}]
chr9 GH09I112742 112742189 112745644 0.46 [{'connected_gene': 'INIP', 'score': 12.07}, {'connected_gene': 'SLC46A2', 'score': 9.66}, {'connected_gene': 'ENSG00000226609', 'score': 7.16}, {'connected_gene': 'SNX30', 'score': 0.44}]
chr9 GH09I112763 112763889 112765706 1.27 [{'connected_gene': 'INIP', 'score': 10.92}, {'connected_gene': 'SLC46A2', 'score': 9.44}, {'connected_gene': 'ENSG00000226609', 'score': 6.2}, {'connected_gene': 'SNX30', 'score': 4.74}, {'connected_gene': 'PIR49803', 'score': 0.14}]
chr9 GH09I112747 112747032 112747460 1.06 [{'connected_gene': 'INIP', 'score': 12.07}, {'connected_gene': 'SNX30', 'score': 2.12}, {'connected_gene': 'KIAA1958', 'score': 2.03}, {'connected_gene': 'ZFP37', 'score': 1.54}, {'connected_gene': 'ZNF883', 'score': 1.39}]
chr9 GH09I112558 112558518 112559290 0.54 [{'connected_gene': 'INIP', 'score': 9.86}, {'connected_gene': 'SNX30', 'score': 9.58}, {'connected_gene': 'ENSG00000226609', 'score': 9.58}, {'connected_gene': 'ENSG00000250068', 'score': 0.34}, {'connected_gene': 'PIR62708', 'score': 0.25}, {'connected_gene': 'KIAA1958', 'score': 0.19}]
chr9 GH09I112761 112761635 112763176 0.31 [{'connected_gene': 'INIP', 'score': 11.04}, {'connected_gene': 'ENSG00000226609', 'score': 7.49}, {'connected_gene': 'SNX30', 'score': 5.25}, {'connected_gene': 'ENSG00000271631', 'score': 5.1}, {'connected_gene': 'PIR49803', 'score': 0.14}]
chr9 GH09I112719 112719053 112720063 0.8 [{'connected_gene': 'INIP', 'score': 550.77}, {'connected_gene': 'SNX30', 'score': 0.29}]
chr9 GH09I112559 112559401 112559600 0.2 [{'connected_gene': 'INIP', 'score': 9.86}, {'connected_gene': 'ENSG00000250068', 'score': 0.34}, {'connected_gene': 'PIR62708', 'score': 0.25}, {'connected_gene': 'KIAA1958', 'score': 0.19}]
chr9 GH09I112560 112559621 112559845 0.38 [{'connected_gene': 'INIP', 'score': 9.86}, {'connected_gene': 'ENSG00000250068', 'score': 0.34}, {'connected_gene': 'PIR62708', 'score': 0.25}, {'connected_gene': 'KIAA1958', 'score': 0.19}]
chr9 GH09I112681 112681383 112681586 0.38 [{'connected_gene': 'INIP', 'score': 0.28}, {'connected_gene': 'GC09P112628', 'score': 0.23}]
chr9 GH09I112678 112678249 112678482 0.22 [{'connected_gene': 'INIP', 'score': 0.28}, {'connected_gene': 'GC09P112628', 'score': 0.25}]
chr9 GH09I112851 112851924 112852109 0.33 [{'connected_gene': 'SLC46A2', 'score': 11.59}, {'connected_gene': 'INIP', 'score': 10.37}, {'connected_gene': 'SNX30', 'score': 10.32}, {'connected_gene': 'ENSG00000226609', 'score': 10.32}, {'connected_gene': 'PIR49803', 'score': 0.37}]
chr9 GH09I112731 112731496 112734073 0.81 [{'connected_gene': 'SLC46A2', 'score': 9.84}, {'connected_gene': 'ENSG00000226609', 'score': 6.68}, {'connected_gene': 'INIP', 'score': 0.39}, {'connected_gene': 'SNX30', 'score': 0.37}]
chr9 GH09I112736 112736866 112738799 0.46 [{'connected_gene': 'SLC46A2', 'score': 9.85}, {'connected_gene': 'ENSG00000226609', 'score': 6.57}, {'connected_gene': 'SNX30', 'score': 0.39}, {'connected_gene': 'INIP', 'score': 0.37}]
chr9 GH09I112866 112866175 112870670 1.3 [{'connected_gene': 'SLC46A2', 'score': 22.85}, {'connected_gene': 'ENSG00000226609', 'score': 15.51}, {'connected_gene': 'SNX30', 'score': 9.8}, {'connected_gene': 'SLC31A2', 'score': 9.71}, {'connected_gene': 'INIP', 'score': 4.99}, {'connected_gene': 'PIR49803', 'score': 0.77}]
chr9 GH09I112707 112707939 112707969 0.23 [{'connected_gene': 'SNX30', 'score': 11.41}, {'connected_gene': 'ENSG00000226609', 'score': 11.41}, {'connected_gene': 'HSDL2', 'score': 4.09}, {'connected_gene': 'PTBP3', 'score': 2.84}, {'connected_gene': 'INIP', 'score': 2.35}, {'connected_gene': 'GC09P112628', 'score': 0.18}]
chr9 GH09I112783 112783009 112784996 0.96 [{'connected_gene': 'SNX30', 'score': 18.89}, {'connected_gene': 'ENSG00000226609', 'score': 18.85}, {'connected_gene': 'INIP', 'score': 11.05}, {'connected_gene': 'SLC46A2', 'score': 10.27}, {'connected_gene': 'PIR49803', 'score': 0.17}]
chr9 GH09I112631 112631821 112631970 0.2 [{'connected_gene': 'SNX30', 'score': 9.86}, {'connected_gene': 'ENSG00000226609', 'score': 9.86}, {'connected_gene': 'GC09P112628', 'score': 0.77}, {'connected_gene': 'INIP', 'score': 0.17}, {'connected_gene': 'KIAA1958', 'score': 0.11}]
chr9 GH09I112655 112655449 112656170 0.31 [{'connected_gene': 'SNX30', 'score': 9.96}, {'connected_gene': 'ENSG00000226609', 'score': 9.96}, {'connected_gene': 'GC09P112628', 'score': 0.31}, {'connected_gene': 'INIP', 'score': 0.21}, {'connected_gene': 'KIAA1958', 'score': 0.1}]
chr9 GH09I112705 112705841 112705990 0.38 [{'connected_gene': 'SNX30', 'score': 11.41}, {'connected_gene': 'ENSG00000226609', 'score': 11.41}, {'connected_gene': 'INIP', 'score': 0.39}, {'connected_gene': 'GC09P112628', 'score': 0.18}]
chr9 GH09I112771 112771771 112772490 0.76 [{'connected_gene': 'SNX30', 'score': 12.17}, {'connected_gene': 'ENSG00000226609', 'score': 12.17}, {'connected_gene': 'INIP', 'score': 11.23}, {'connected_gene': 'PIR49803', 'score': 0.15}]
chr9 GH09I112725 112725801 112727799 0.51 [{'connected_gene': 'SNX30', 'score': 11.69}, {'connected_gene': 'ENSG00000226609', 'score': 11.69}, {'connected_gene': 'INIP', 'score': 0.44}]
chr9 GH09I112835 112835610 112837510 0.66 [{'connected_gene': 'SNX30', 'score': 17.61}, {'connected_gene': 'ENSG00000226609', 'score': 15.99}, {'connected_gene': 'SLC46A2', 'score': 11.33}, {'connected_gene': 'INIP', 'score': 10.17}, {'connected_gene': 'PIR49803', 'score': 0.29}]
chr9 GH09I112447 112447400 112447801 0.79 [{'connected_gene': 'KIAA1958', 'score': 12.09}, {'connected_gene': 'C9orf147', 'score': 12.07}, {'connected_gene': 'HSDL2', 'score': 11.05}, {'connected_gene': 'INIP', 'score': 9.73}, {'connected_gene': 'PIR60820', 'score': 0.31}]
chr9 GH09I112488 112488793 112491962 1.07 [{'connected_gene': 'C9orf147', 'score': 550.77}, {'connected_gene': 'HSDL2', 'score': 18.96}, {'connected_gene': 'INIP', 'score': 10.4}, {'connected_gene': 'SNX30', 'score': 9.74}, {'connected_gene': 'ENSG00000226609', 'score': 9.73}, {'connected_gene': 'KIAA1958', 'score': 0.77}]
chr9 GH09I112881 112881114 112882083 0.31 [{'connected_gene': 'ENSG00000226609', 'score': 5.14}, {'connected_gene': 'INIP', 'score': 4.53}, {'connected_gene': 'ENSG00000271631', 'score': 0.77}, {'connected_gene': 'SLC46A2', 'score': 0.44}, {'connected_gene': 'PIR49803', 'score': 0.39}, {'connected_gene': 'SNX30', 'score': 0.12}]
chr9 GH09I112884 112884281 112884430 0.38 [{'connected_gene': 'ENSG00000271631', 'score': 550.77}, {'connected_gene': 'INIP', 'score': 8.79}, {'connected_gene': 'SLC46A2', 'score': 0.44}, {'connected_gene': 'PIR49803', 'score': 0.39}]
chr9 GH09I112793 112793200 112793490 0.92 [{'connected_gene': 'ENSG00000226609', 'score': 17.19}, {'connected_gene': 'SNX30', 'score': 11.39}, {'connected_gene': 'INIP', 'score': 11.33}, {'connected_gene': 'KIAA1958', 'score': 11.25}, {'connected_gene': 'C9orf147', 'score': 11.24}, {'connected_gene': 'PIR49803', 'score': 0.18}]
chr9 GH09I112653 112653378 112654904 0.46 [{'connected_gene': 'ENSG00000226609', 'score': 14.68}, {'connected_gene': 'SNX30', 'score': 10.18}, {'connected_gene': 'GC09P112628', 'score': 0.31}, {'connected_gene': 'INIP', 'score': 0.21}, {'connected_gene': 'KIAA1958', 'score': 0.1}]
chr9 GH09I112788 112788781 112790621 0.66 [{'connected_gene': 'ENSG00000226609', 'score': 17.21}, {'connected_gene': 'SNX30', 'score': 11.4}, {'connected_gene': 'INIP', 'score': 11.34}, {'connected_gene': 'C9orf147', 'score': 11.25}, {'connected_gene': 'KIAA1958', 'score': 11.24}, {'connected_gene': 'SLC46A2', 'score': 10.14}, {'connected_gene': 'PIR49803', 'score': 0.18}]
chr9 GH09I112838 112838050 112840626 0.2 [{'connected_gene': 'ENSG00000226609', 'score': 16.15}, {'connected_gene': 'SNX30', 'score': 15.08}, {'connected_gene': 'SLC46A2', 'score': 11.49}, {'connected_gene': 'INIP', 'score': 9.85}, {'connected_gene': 'PIR49803', 'score': 0.29}]
chr9 GH09I112852 112852689 112855054 0.63 [{'connected_gene': 'ENSG00000226609', 'score': 15.38}, {'connected_gene': 'SNX30', 'score': 15.15}, {'connected_gene': 'SLC46A2', 'score': 11.59}, {'connected_gene': 'INIP', 'score': 10.37}, {'connected_gene': 'PIR49803', 'score': 0.37}]

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