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
ENST00000349457 [[57576332, 57576613], [57595967, 57596069], [57596295, 57596371], [57597002, 57597159], [57597759, 57597891], [57598945, 57599062], [57600510, 57600663], [57601381, 57601503], [57601767, 57602036], [57604329, 57604447], [57608726, 57609004], [57609349, 57611101]] [[57596005, 57596069], [57596295, 57596371], [57597002, 57597159], [57597759, 57597891], [57598945, 57599062], [57600510, 57600663], [57601381, 57601503], [57601767, 57602036], [57604329, 57604447], [57608726, 57609004], [57609349, 57609450]]
ENST00000564983 [[57576565, 57576613], [57595967, 57596069], [57596295, 57596513]] None
ENST00000394361 [[57576565, 57576613], [57595967, 57596069], [57596295, 57596371], [57597002, 57597159], [57597759, 57597891], [57598945, 57599062], [57600510, 57600663], [57601381, 57601503], [57601767, 57602036], [57608726, 57609004], [57609349, 57609551]] None
ENST00000564607 [[57576566, 57576613], [57595967, 57596069], [57596295, 57596371], [57597002, 57597159], [57597759, 57597891], [57598945, 57600663], [57601381, 57601503], [57601767, 57602036], [57604329, 57604447], [57608726, 57609004], [57609349, 57611098]] None
ENST00000340339 [[57576600, 57577085], [57595967, 57596069], [57596295, 57596371], [57597002, 57597159], [57597759, 57597891], [57598945, 57599062], [57600510, 57600663], [57601381, 57601503], [57601767, 57602036], [57604329, 57604447], [57608726, 57609004], [57609349, 57611107]] [[57596005, 57596069], [57596295, 57596371], [57597002, 57597159], [57597759, 57597891], [57598945, 57599062], [57600510, 57600663], [57601381, 57601503], [57601767, 57602036], [57604329, 57604447], [57608726, 57609004], [57609349, 57609450]]
ENST00000569839 [[57608727, 57609004], [57624523, 57624682], [57625525, 57625593]] None
NM_001318481 [[57576548, 57576613], [57595967, 57596069], [57596295, 57596371], [57597002, 57597159], [57597759, 57597891], [57598945, 57599062], [57600510, 57600663], [57601381, 57601503], [57601767, 57602036], [57608726, 57609004], [57609349, 57611101]] [[57596005, 57596069], [57596295, 57596371], [57597002, 57597159], [57597759, 57597891], [57598945, 57599062], [57600510, 57600663], [57601381, 57601503], [57601767, 57602036], [57608726, 57608992]]
NM_001304376 [[57576548, 57576613], [57595967, 57596069], [57596295, 57596371], [57597002, 57597159], [57597759, 57597891], [57598945, 57599062], [57600510, 57600663], [57601381, 57601503], [57601767, 57602036], [57604329, 57604447], [57608726, 57609004], [57609349, 57611101]] [[57596005, 57596069], [57596295, 57596371], [57597002, 57597159], [57597759, 57597891], [57598945, 57599062], [57600510, 57600663], [57601381, 57601503], [57601767, 57602036], [57604329, 57604447], [57608726, 57609004], [57609349, 57609450]]
NM_153837 [[57576548, 57577085], [57595967, 57596069], [57596295, 57596371], [57597002, 57597159], [57597759, 57597891], [57598945, 57599062], [57600510, 57600663], [57601381, 57601503], [57601767, 57602036], [57604329, 57604447], [57608726, 57609004], [57609349, 57611101]] [[57596005, 57596069], [57596295, 57596371], [57597002, 57597159], [57597759, 57597891], [57598945, 57599062], [57600510, 57600663], [57601381, 57601503], [57601767, 57602036], [57604329, 57604447], [57608726, 57609004], [57609349, 57609450]]
Promoter
Chrom Start End Description
chr16 57576547 57576581 CAGE_peak_1_at_GPR114_5end
chr16 57576584 57576595 CAGE_peak_2_at_GPR114_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I056859 56859594 56863797 1.13 [{'connected_gene': 'NUP93', 'score': 15.36}, {'connected_gene': 'ADGRG5', 'score': 9.85}, {'connected_gene': 'SLC12A3', 'score': 6.18}, {'connected_gene': 'MIR138-2', 'score': 0.77}, {'connected_gene': 'GC16P056865', 'score': 0.77}]
chr16 GH16I057531 57531743 57539884 2.64 [{'connected_gene': 'CCDC102A', 'score': 565.2}, {'connected_gene': 'PIR39147', 'score': 550.77}, {'connected_gene': 'DOK4', 'score': 6.91}, {'connected_gene': 'ADGRG5', 'score': 2.47}]
chr16 GH16I057546 57546149 57546296 0.38 [{'connected_gene': 'CCDC102A', 'score': 0.44}, {'connected_gene': 'ADGRG5', 'score': 0.37}, {'connected_gene': 'GC16P057566', 'score': 0.34}]
chr16 GH16I057541 57541809 57541958 0.4 [{'connected_gene': 'CCDC102A', 'score': 8.47}, {'connected_gene': 'ADGRG5', 'score': 0.39}, {'connected_gene': 'GC16P057566', 'score': 0.34}]
chr16 GH16I057576 57576469 57576801 1.13 [{'connected_gene': 'ADGRG1', 'score': 12.21}, {'connected_gene': 'CCDC102A', 'score': 6.26}, {'connected_gene': 'GC16P057566', 'score': 0.39}, {'connected_gene': 'GC16P057594', 'score': 0.37}, {'connected_gene': 'LOC105371291', 'score': 0.29}, {'connected_gene': 'ADGRG5', 'score': 0.25}]
chr16 GH16I057626 57626369 57631200 1.96 [{'connected_gene': 'ADGRG1', 'score': 550.37}, {'connected_gene': 'RSPRY1', 'score': 140.37}, {'connected_gene': 'LOC101927556', 'score': 77.36}, {'connected_gene': 'POLR2C', 'score': 48.14}, {'connected_gene': 'NUP93', 'score': 45.78}, {'connected_gene': 'LOC105371286', 'score': 30.85}, {'connected_gene': 'SETD6', 'score': 22.65}, {'connected_gene': 'ADGRG3', 'score': 11.84}, {'connected_gene': 'CSNK2A2', 'score': 11.25}, {'connected_gene': 'CCDC102A', 'score': 10.29}, {'connected_gene': 'ARL2BP', 'score': 10.09}, {'connected_gene': 'CFAP20', 'score': 9.94}, {'connected_gene': 'CNGB1', 'score': 9.54}, {'connected_gene': 'NDRG4', 'score': 5.27}, {'connected_gene': 'CCDC113', 'score': 4.88}, {'connected_gene': 'ADGRG5', 'score': 4.64}, {'connected_gene': 'GC16M057629', 'score': 0.77}, {'connected_gene': 'ENSG00000261633', 'score': 0.77}]
chr16 GH16I057590 57589549 57589698 0.77 [{'connected_gene': 'ADGRG1', 'score': 12.82}, {'connected_gene': 'ADGRG3', 'score': 12.5}, {'connected_gene': 'CCDC102A', 'score': 4.96}, {'connected_gene': 'GC16P057594', 'score': 0.77}, {'connected_gene': 'LOC105371291', 'score': 0.37}, {'connected_gene': 'GC16P057566', 'score': 0.34}, {'connected_gene': 'ADGRG5', 'score': 0.21}]
chr16 GH16I057583 57583460 57584776 0.2 [{'connected_gene': 'ADGRG1', 'score': 12.8}, {'connected_gene': 'ADGRG3', 'score': 12.49}, {'connected_gene': 'DRC7', 'score': 12.12}, {'connected_gene': 'KATNB1', 'score': 11.63}, {'connected_gene': 'CNGB1', 'score': 9.87}, {'connected_gene': 'CCDC102A', 'score': 5.3}, {'connected_gene': 'FAM192A', 'score': 4.68}, {'connected_gene': 'GC16P057594', 'score': 0.39}, {'connected_gene': 'GC16P057566', 'score': 0.37}, {'connected_gene': 'LOC105371291', 'score': 0.34}, {'connected_gene': 'ADGRG5', 'score': 0.23}]
chr16 GH16I057581 57581592 57582616 0.43 [{'connected_gene': 'ADGRG1', 'score': 12.4}, {'connected_gene': 'ADGRG3', 'score': 12.25}, {'connected_gene': 'DRC7', 'score': 12.12}, {'connected_gene': 'KATNB1', 'score': 11.63}, {'connected_gene': 'CNGB1', 'score': 9.66}, {'connected_gene': 'CCDC102A', 'score': 5.42}, {'connected_gene': 'GC16P057594', 'score': 0.39}, {'connected_gene': 'GC16P057566', 'score': 0.37}, {'connected_gene': 'LOC105371291', 'score': 0.31}, {'connected_gene': 'ADGRG5', 'score': 0.23}]
chr16 GH16I057580 57580303 57581159 0.2 [{'connected_gene': 'ADGRG1', 'score': 12.49}, {'connected_gene': 'ADGRG3', 'score': 12.34}, {'connected_gene': 'ADGRG5', 'score': 5.77}, {'connected_gene': 'CCDC102A', 'score': 4.92}, {'connected_gene': 'GC16P057594', 'score': 0.39}, {'connected_gene': 'GC16P057566', 'score': 0.39}, {'connected_gene': 'LOC105371291', 'score': 0.31}]
chr16 GH16I057577 57577372 57579906 0.63 [{'connected_gene': 'ADGRG1', 'score': 12.47}, {'connected_gene': 'ADGRG3', 'score': 12.34}, {'connected_gene': 'ADGRG5', 'score': 6.32}, {'connected_gene': 'CCDC102A', 'score': 6.06}, {'connected_gene': 'GC16P057566', 'score': 0.39}, {'connected_gene': 'GC16P057594', 'score': 0.37}, {'connected_gene': 'LOC105371291', 'score': 0.31}]
chr16 GH16I057585 57585075 57586337 0.2 [{'connected_gene': 'ADGRG1', 'score': 12.82}, {'connected_gene': 'ADGRG3', 'score': 12.49}, {'connected_gene': 'ADGRG5', 'score': 6.12}, {'connected_gene': 'CCDC102A', 'score': 5.02}, {'connected_gene': 'GC16P057594', 'score': 0.44}, {'connected_gene': 'GC16P057566', 'score': 0.37}, {'connected_gene': 'LOC105371291', 'score': 0.34}]
chr16 GH16I057588 57588467 57589518 1.03 [{'connected_gene': 'ADGRG1', 'score': 12.82}, {'connected_gene': 'ADGRG3', 'score': 12.5}, {'connected_gene': 'ADGRG5', 'score': 2.31}, {'connected_gene': 'GC16P057594', 'score': 0.44}, {'connected_gene': 'LOC105371291', 'score': 0.37}, {'connected_gene': 'GC16P057566', 'score': 0.34}]
chr16 GH16I057578 57576269 57576418 0.87 [{'connected_gene': 'ADGRG1', 'score': 12.21}, {'connected_gene': 'GC16P057566', 'score': 0.44}, {'connected_gene': 'GC16P057594', 'score': 0.37}, {'connected_gene': 'LOC105371291', 'score': 0.29}, {'connected_gene': 'ADGRG5', 'score': 0.25}]
chr16 GH16I057645 57645114 57649778 2.17 [{'connected_gene': 'ADGRG1', 'score': 550.28}, {'connected_gene': 'KATNB1', 'score': 12.08}, {'connected_gene': 'RSPRY1', 'score': 11.07}, {'connected_gene': 'CNOT1', 'score': 10.91}, {'connected_gene': 'POLR2C', 'score': 9.86}, {'connected_gene': 'ADGRG5', 'score': 2.22}, {'connected_gene': 'CFAP20', 'score': 1.62}, {'connected_gene': 'GC16P057639', 'score': 0.44}, {'connected_gene': 'GC16M057649', 'score': 0.44}]
chr16 GH16I057589 57589998 57594114 1.35 [{'connected_gene': 'RSPRY1', 'score': 42.96}, {'connected_gene': 'LOC101927556', 'score': 22.54}, {'connected_gene': 'POLR2C', 'score': 20.66}, {'connected_gene': 'ADGRG3', 'score': 12.5}, {'connected_gene': 'CCDC102A', 'score': 7.37}, {'connected_gene': 'GC16P057594', 'score': 0.77}, {'connected_gene': 'LOC105371291', 'score': 0.37}, {'connected_gene': 'GC16P057566', 'score': 0.31}, {'connected_gene': 'ADGRG5', 'score': 0.21}]
chr16 GH16I057446 57446154 57448526 2.07 [{'connected_gene': 'CIAPIN1', 'score': 568.24}, {'connected_gene': 'COQ9', 'score': 550.77}, {'connected_gene': 'ADGRG5', 'score': 10.0}, {'connected_gene': 'GC16P057442', 'score': 0.44}]
chr16 GH16I057506 57506809 57511126 0.8 [{'connected_gene': 'DOK4', 'score': 19.35}, {'connected_gene': 'POLR2C', 'score': 11.75}, {'connected_gene': 'CIAPIN1', 'score': 11.32}, {'connected_gene': 'COQ9', 'score': 11.32}, {'connected_gene': 'ADGRG1', 'score': 10.25}, {'connected_gene': 'CCDC102A', 'score': 7.22}, {'connected_gene': 'PIR46688', 'score': 0.39}, {'connected_gene': 'ADGRG5', 'score': 0.34}]
chr16 GH16I057512 57512857 57515641 0.72 [{'connected_gene': 'DOK4', 'score': 7.33}, {'connected_gene': 'ADGRG5', 'score': 5.23}, {'connected_gene': 'PIR46688', 'score': 0.37}, {'connected_gene': 'CCDC102A', 'score': 0.34}]
chr16 GH16I057519 57519849 57520018 0.86 [{'connected_gene': 'DOK4', 'score': 7.27}, {'connected_gene': 'ADGRG5', 'score': 0.44}, {'connected_gene': 'CCDC102A', 'score': 0.37}, {'connected_gene': 'PIR46688', 'score': 0.34}]
chr16 GH16I057528 57527604 57531659 1.48 [{'connected_gene': 'ADGRG5', 'score': 556.82}, {'connected_gene': 'CCDC102A', 'score': 8.65}, {'connected_gene': 'DOK4', 'score': 7.21}, {'connected_gene': 'NUP93', 'score': 4.74}, {'connected_gene': 'ZNF319', 'score': 2.26}, {'connected_gene': 'PIR39147', 'score': 0.44}]
chr16 GH16I057542 57541982 57545933 1.81 [{'connected_gene': 'ADGRG5', 'score': 560.22}, {'connected_gene': 'CCDC102A', 'score': 14.68}, {'connected_gene': 'DOK4', 'score': 6.58}, {'connected_gene': 'GC16P057566', 'score': 0.34}]
chr16 GH16I057527 57527249 57527418 0.31 [{'connected_gene': 'ADGRG5', 'score': 550.77}, {'connected_gene': 'CCDC102A', 'score': 0.44}, {'connected_gene': 'PIR46688', 'score': 0.31}]
chr16 GH16I057520 57520089 57520198 0.83 [{'connected_gene': 'ADGRG5', 'score': 0.44}, {'connected_gene': 'CCDC102A', 'score': 0.37}, {'connected_gene': 'PIR46688', 'score': 0.34}]
chr16 GH16I057605 57605819 57612029 1.61 [{'connected_gene': 'LOC105371291', 'score': 550.77}, {'connected_gene': 'ADGRG1', 'score': 550.77}, {'connected_gene': 'ADGRG5', 'score': 6.82}, {'connected_gene': 'ZNF319', 'score': 1.29}, {'connected_gene': 'GC16P057594', 'score': 0.39}]
chr16 GH16I057600 57600029 57603884 1.6 [{'connected_gene': 'HMGB3P32', 'score': 550.77}, {'connected_gene': 'ADGRG3', 'score': 12.2}, {'connected_gene': 'ADGRG5', 'score': 2.12}, {'connected_gene': 'GC16P057594', 'score': 0.44}, {'connected_gene': 'LOC105371291', 'score': 0.44}]
chr16 GH16I057500 57500909 57501058 0.63 [{'connected_gene': 'PIR46688', 'score': 0.77}, {'connected_gene': 'ADGRG5', 'score': 0.31}]

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