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
ENST00000549621 [[113623330, 113623826], [113623997, 113624121], [113624487, 113624853], [113629114, 113630169]] [[113624551, 113624853], [113629114, 113629622]]
ENST00000548278 [[113623330, 113623826], [113623989, 113624121], [113624487, 113624853], [113629114, 113630173]] [[113624551, 113624853], [113629114, 113629622]]
ENST00000552495 [[113623346, 113623826], [113624487, 113624853], [113629114, 113630166]] [[113623818, 113623826], [113624487, 113624853], [113629114, 113629622]]
NM_001286215 [[113623330, 113623826], [113624487, 113624853], [113629114, 113630173]] [[113623818, 113623826], [113624487, 113624853], [113629114, 113629622]]
NM_032848 [[113623330, 113623826], [113623989, 113624121], [113624487, 113624853], [113629114, 113630173]] [[113624551, 113624853], [113629114, 113629622]]
Promoter
Chrom Start End Description
chr12 113622832 113622885 CAGE_peak_6_at_C12orf52_5end
chr12 113622902 113622915 CAGE_peak_9_at_C12orf52_5end
chr12 113623325 113623373 CAGE_peak_2_at_C12orf52_5end
chr12 113623378 113623400 CAGE_peak_4_at_C12orf52_5end
chr12 113623507 113623540 CAGE_peak_1_at_C12orf52_5end
chr12 113623547 113623565 CAGE_peak_3_at_C12orf52_5end
chr12 113623566 113623592 CAGE_peak_5_at_C12orf52_5end
chr12 113623593 113623604 CAGE_peak_7_at_C12orf52_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I113261 113261711 113264255 1.17 [{'connected_gene': 'RBM19', 'score': 12.9}, {'connected_gene': 'RITA1', 'score': 11.91}, {'connected_gene': 'GC12M113256', 'score': 0.44}, {'connected_gene': 'ENSG00000277566', 'score': 0.39}, {'connected_gene': 'TPCN1', 'score': 0.26}]
chr12 GH12I113153 113152676 113152745 0.77 [{'connected_gene': 'RBM19', 'score': 12.15}, {'connected_gene': 'ENSG00000201208', 'score': 11.69}, {'connected_gene': 'DDX54', 'score': 11.67}, {'connected_gene': 'RITA1', 'score': 11.67}, {'connected_gene': 'CFAP73', 'score': 0.77}, {'connected_gene': 'ENSG00000199899', 'score': 0.77}, {'connected_gene': 'GC12M113158', 'score': 0.77}]
chr12 GH12I113152 113152856 113153525 1.62 [{'connected_gene': 'RBM19', 'score': 12.9}, {'connected_gene': 'ENSG00000201208', 'score': 11.69}, {'connected_gene': 'DDX54', 'score': 11.67}, {'connected_gene': 'RITA1', 'score': 11.67}, {'connected_gene': 'CFAP73', 'score': 0.77}, {'connected_gene': 'ENSG00000199899', 'score': 0.77}, {'connected_gene': 'GC12M113158', 'score': 0.77}]
chr12 GH12I113226 113226199 113234312 1.73 [{'connected_gene': 'RITA1', 'score': 24.24}, {'connected_gene': 'RBM19', 'score': 12.15}, {'connected_gene': 'DDX54', 'score': 11.55}, {'connected_gene': 'ENSG00000201208', 'score': 11.52}, {'connected_gene': 'IQCD', 'score': 2.8}, {'connected_gene': 'TPCN1', 'score': 2.65}, {'connected_gene': 'DTX1', 'score': 1.39}, {'connected_gene': 'ENSG00000277566', 'score': 0.37}]
chr12 GH12I113251 113251528 113252814 0.51 [{'connected_gene': 'RITA1', 'score': 21.84}, {'connected_gene': 'RASAL1', 'score': 13.26}, {'connected_gene': 'IQCD', 'score': 11.99}, {'connected_gene': 'TPCN1', 'score': 11.99}, {'connected_gene': 'DDX54', 'score': 11.2}, {'connected_gene': 'ENSG00000201208', 'score': 11.19}, {'connected_gene': 'PLBD2', 'score': 10.65}, {'connected_gene': 'ENSG00000277566', 'score': 0.77}, {'connected_gene': 'GC12M113256', 'score': 0.37}]
chr12 GH12I113235 113235709 113249082 1.44 [{'connected_gene': 'RITA1', 'score': 24.37}, {'connected_gene': 'RASAL1', 'score': 13.27}, {'connected_gene': 'IQCD', 'score': 12.04}, {'connected_gene': 'TPCN1', 'score': 12.04}, {'connected_gene': 'DDX54', 'score': 11.5}, {'connected_gene': 'ENSG00000201208', 'score': 11.49}, {'connected_gene': 'PLBD2', 'score': 11.07}, {'connected_gene': 'ENSG00000277566', 'score': 0.44}]
chr12 GH12I113258 113258478 113261000 1.2 [{'connected_gene': 'RITA1', 'score': 21.96}, {'connected_gene': 'DDX54', 'score': 11.32}, {'connected_gene': 'ENSG00000201208', 'score': 11.3}, {'connected_gene': 'GC12M113256', 'score': 0.39}, {'connected_gene': 'ENSG00000277566', 'score': 0.39}, {'connected_gene': 'TPCN1', 'score': 0.28}]
chr12 GH12I113183 113183796 113187512 2.09 [{'connected_gene': 'RITA1', 'score': 563.38}, {'connected_gene': 'DDX54', 'score': 560.78}, {'connected_gene': 'HECTD4', 'score': 26.35}, {'connected_gene': 'RBM19', 'score': 23.1}, {'connected_gene': 'RPL6', 'score': 13.7}, {'connected_gene': 'SLC8B1', 'score': 12.07}, {'connected_gene': 'CFAP73', 'score': 11.1}, {'connected_gene': 'DYNLL1P4', 'score': 10.28}, {'connected_gene': 'GC12M113186', 'score': 0.77}, {'connected_gene': 'ENSG00000257286', 'score': 0.44}]
chr12 GH12I113161 113161576 113161745 0.56 [{'connected_gene': 'RITA1', 'score': 13.97}, {'connected_gene': 'DTX1', 'score': 10.84}, {'connected_gene': 'MIR7106', 'score': 0.77}, {'connected_gene': 'GC12M113179', 'score': 0.37}, {'connected_gene': 'ENSG00000201208', 'score': 0.37}, {'connected_gene': 'DDX54', 'score': 0.34}]
chr12 GH12I113216 113216501 113218120 0.96 [{'connected_gene': 'RITA1', 'score': 11.2}, {'connected_gene': 'IQCD', 'score': 0.77}, {'connected_gene': 'TPCN1', 'score': 0.77}, {'connected_gene': 'PIR59579', 'score': 0.44}]
chr12 GH12I113199 113199569 113200930 0.43 [{'connected_gene': 'RITA1', 'score': 13.01}, {'connected_gene': 'ENSG00000201208', 'score': 12.06}, {'connected_gene': 'GC12M113206', 'score': 0.44}, {'connected_gene': 'ENSG00000257286', 'score': 0.44}, {'connected_gene': 'IQCD', 'score': 0.34}]
chr12 GH12I113213 113213828 113216284 1.62 [{'connected_gene': 'RITA1', 'score': 11.49}, {'connected_gene': 'SDSL', 'score': 11.4}, {'connected_gene': 'SLC8B1', 'score': 6.25}, {'connected_gene': 'TPCN1', 'score': 1.98}, {'connected_gene': 'OAS2', 'score': 1.45}, {'connected_gene': 'OAS3', 'score': 1.39}, {'connected_gene': 'OAS1', 'score': 1.27}, {'connected_gene': 'IQCD', 'score': 0.44}, {'connected_gene': 'PIR59579', 'score': 0.44}]
chr12 GH12I113172 113172675 113174405 0.7 [{'connected_gene': 'RITA1', 'score': 11.36}, {'connected_gene': 'GC12M113179', 'score': 0.77}, {'connected_gene': 'ENSG00000201208', 'score': 0.77}, {'connected_gene': 'MIR7106', 'score': 0.39}, {'connected_gene': 'DDX54', 'score': 0.39}]
chr12 GH12I113265 113265764 113270135 0.46 [{'connected_gene': 'RASAL1', 'score': 13.24}, {'connected_gene': 'RITA1', 'score': 11.9}, {'connected_gene': 'GC12M113256', 'score': 0.77}, {'connected_gene': 'ENSG00000277566', 'score': 0.37}, {'connected_gene': 'TPCN1', 'score': 0.25}]
chr12 GH12I113253 113253199 113254421 0.2 [{'connected_gene': 'DDX54', 'score': 11.33}, {'connected_gene': 'RITA1', 'score': 11.33}, {'connected_gene': 'ENSG00000201208', 'score': 11.31}, {'connected_gene': 'ENSG00000277566', 'score': 0.77}, {'connected_gene': 'GC12M113256', 'score': 0.37}, {'connected_gene': 'TPCN1', 'score': 0.29}]
chr12 GH12I113262 113261003 113261415 0.4 [{'connected_gene': 'DDX54', 'score': 11.31}, {'connected_gene': 'RITA1', 'score': 11.31}, {'connected_gene': 'ENSG00000201208', 'score': 11.3}, {'connected_gene': 'GC12M113256', 'score': 0.39}, {'connected_gene': 'ENSG00000277566', 'score': 0.39}, {'connected_gene': 'TPCN1', 'score': 0.26}]
chr12 GH12I113220 113220237 113224478 2.53 [{'connected_gene': 'TPCN1', 'score': 552.58}, {'connected_gene': 'IQCD', 'score': 550.77}, {'connected_gene': 'RITA1', 'score': 24.18}, {'connected_gene': 'RASAL1', 'score': 13.18}, {'connected_gene': 'DDX54', 'score': 11.55}, {'connected_gene': 'ENSG00000201208', 'score': 11.54}, {'connected_gene': 'RBM19', 'score': 10.47}, {'connected_gene': 'ENSG00000277566', 'score': 0.31}]
chr12 GH12I113149 113149210 113150320 1.55 [{'connected_gene': 'CFAP73', 'score': 550.77}, {'connected_gene': 'RASAL1', 'score': 16.44}, {'connected_gene': 'ENSG00000201208', 'score': 11.69}, {'connected_gene': 'DDX54', 'score': 11.66}, {'connected_gene': 'RITA1', 'score': 11.66}, {'connected_gene': 'ENSG00000199899', 'score': 0.44}, {'connected_gene': 'GC12M113158', 'score': 0.44}]
chr12 GH12I113356 113356590 113360621 2.24 [{'connected_gene': 'PLBD2', 'score': 579.24}, {'connected_gene': 'SLC8B1', 'score': 558.54}, {'connected_gene': 'RBM19', 'score': 26.3}, {'connected_gene': 'SDSL', 'score': 20.86}, {'connected_gene': 'RITA1', 'score': 10.66}, {'connected_gene': 'DDX54', 'score': 10.66}, {'connected_gene': 'ENSG00000201208', 'score': 10.65}, {'connected_gene': 'RPL6', 'score': 10.13}, {'connected_gene': 'SDS', 'score': 1.43}, {'connected_gene': 'LOC105369989', 'score': 0.77}]
chr12 GH12I113097 113097816 113097965 0.66 [{'connected_gene': 'DTX1', 'score': 12.31}, {'connected_gene': 'ENSG00000201208', 'score': 11.21}, {'connected_gene': 'DDX54', 'score': 11.2}, {'connected_gene': 'RITA1', 'score': 11.2}, {'connected_gene': 'GC12P113070', 'score': 0.31}, {'connected_gene': 'RASAL1', 'score': 0.28}]
chr12 GH12I113098 113098139 113099105 1.31 [{'connected_gene': 'DTX1', 'score': 12.31}, {'connected_gene': 'ENSG00000201208', 'score': 11.22}, {'connected_gene': 'DDX54', 'score': 11.2}, {'connected_gene': 'RITA1', 'score': 11.2}, {'connected_gene': 'RASAL1', 'score': 6.76}, {'connected_gene': 'GC12P113070', 'score': 0.31}]
chr12 GH12I113094 113094345 113096076 0.49 [{'connected_gene': 'DTX1', 'score': 12.33}, {'connected_gene': 'ENSG00000201208', 'score': 11.21}, {'connected_gene': 'DDX54', 'score': 11.19}, {'connected_gene': 'RITA1', 'score': 11.19}, {'connected_gene': 'RASAL1', 'score': 6.94}, {'connected_gene': 'GC12P113070', 'score': 0.34}]
chr12 GH12I113089 113089028 113090786 0.92 [{'connected_gene': 'DTX1', 'score': 12.97}, {'connected_gene': 'ENSG00000201208', 'score': 11.66}, {'connected_gene': 'DDX54', 'score': 11.65}, {'connected_gene': 'RITA1', 'score': 11.65}, {'connected_gene': 'CFAP73', 'score': 11.5}, {'connected_gene': 'RASAL1', 'score': 7.52}, {'connected_gene': 'GC12P113070', 'score': 0.37}]
chr12 GH12I113031 113031076 113031205 0.72 [{'connected_gene': 'DTX1', 'score': 11.89}, {'connected_gene': 'OAS1', 'score': 11.69}, {'connected_gene': 'ENSG00000201208', 'score': 11.12}, {'connected_gene': 'DDX54', 'score': 11.11}, {'connected_gene': 'RITA1', 'score': 11.11}, {'connected_gene': 'CFAP73', 'score': 11.08}, {'connected_gene': 'OAS3', 'score': 11.0}, {'connected_gene': 'ENSG00000257452', 'score': 0.39}, {'connected_gene': 'RPS15AP32', 'score': 0.34}]
chr12 GH12I113092 113092706 113094327 1.11 [{'connected_gene': 'DTX1', 'score': 12.33}, {'connected_gene': 'CFAP73', 'score': 11.88}, {'connected_gene': 'ENSG00000201208', 'score': 11.2}, {'connected_gene': 'DDX54', 'score': 11.19}, {'connected_gene': 'RITA1', 'score': 11.19}, {'connected_gene': 'RASAL1', 'score': 7.2}, {'connected_gene': 'GC12P113070', 'score': 0.34}]
chr12 GH12I113196 113196801 113197400 1.1 [{'connected_gene': 'IQCD', 'score': 12.86}, {'connected_gene': 'TPCN1', 'score': 12.86}, {'connected_gene': 'RITA1', 'score': 12.47}, {'connected_gene': 'SDSL', 'score': 10.58}, {'connected_gene': 'ENSG00000257286', 'score': 0.77}, {'connected_gene': 'GC12M113206', 'score': 0.44}]
chr12 GH12I113192 113192621 113196218 1.28 [{'connected_gene': 'IQCD', 'score': 12.83}, {'connected_gene': 'TPCN1', 'score': 12.83}, {'connected_gene': 'RITA1', 'score': 12.51}, {'connected_gene': 'SDSL', 'score': 10.58}, {'connected_gene': 'ENSG00000257286', 'score': 0.77}, {'connected_gene': 'GC12M113206', 'score': 0.39}]
chr12 GH12I113291 113291856 113292626 0.2 [{'connected_gene': 'MIR6762', 'score': 550.77}, {'connected_gene': 'RITA1', 'score': 12.66}, {'connected_gene': 'RASAL1', 'score': 12.06}, {'connected_gene': 'GC12M113299', 'score': 0.44}, {'connected_gene': 'TPCN1', 'score': 0.19}]
chr12 GH12I113298 113297853 113300822 1.27 [{'connected_gene': 'GC12P113300', 'score': 550.77}, {'connected_gene': 'GC12M113299', 'score': 550.77}, {'connected_gene': 'RITA1', 'score': 11.04}, {'connected_gene': 'RASAL1', 'score': 10.73}, {'connected_gene': 'MIR6762', 'score': 0.44}, {'connected_gene': 'SLC8B1', 'score': 0.21}, {'connected_gene': 'TPCN1', 'score': 0.18}]
chr12 GH12I113039 113039973 113041603 1.12 [{'connected_gene': 'ENSG00000201208', 'score': 11.35}, {'connected_gene': 'RITA1', 'score': 11.34}, {'connected_gene': 'DDX54', 'score': 11.34}, {'connected_gene': 'OAS3', 'score': 5.52}, {'connected_gene': 'ENSG00000257452', 'score': 5.34}, {'connected_gene': 'SDSL', 'score': 4.95}, {'connected_gene': 'DTX1', 'score': 4.94}, {'connected_gene': 'SLC8B1', 'score': 2.98}, {'connected_gene': 'OAS2', 'score': 2.54}, {'connected_gene': 'OAS1', 'score': 1.3}, {'connected_gene': 'RPS15AP32', 'score': 0.39}]
chr12 GH12I113069 113069404 113072264 1.56 [{'connected_gene': 'GC12P113070', 'score': 550.77}, {'connected_gene': 'ENSG00000201208', 'score': 11.58}, {'connected_gene': 'RITA1', 'score': 11.57}, {'connected_gene': 'DDX54', 'score': 11.57}, {'connected_gene': 'CFAP73', 'score': 11.53}, {'connected_gene': 'DTX1', 'score': 7.53}, {'connected_gene': 'PLBD2', 'score': 5.45}, {'connected_gene': 'SDSL', 'score': 4.87}, {'connected_gene': 'RASAL1', 'score': 0.2}]
chr12 GH12I113191 113191345 113192361 0.49 [{'connected_gene': 'ENSG00000257286', 'score': 550.77}, {'connected_gene': 'RITA1', 'score': 12.51}, {'connected_gene': 'IQCD', 'score': 11.98}, {'connected_gene': 'TPCN1', 'score': 11.98}, {'connected_gene': 'GC12M113186', 'score': 0.77}]
chr12 GH12I113206 113206201 113206881 1.15 [{'connected_gene': 'PIR32722', 'score': 550.77}, {'connected_gene': 'PIR32241', 'score': 550.77}, {'connected_gene': 'GC12M113206', 'score': 550.77}, {'connected_gene': 'GC12M113226', 'score': 550.77}, {'connected_gene': 'PIR59579', 'score': 550.77}, {'connected_gene': 'RITA1', 'score': 11.44}, {'connected_gene': 'IQCD', 'score': 0.39}]
chr12 GH12I113190 113190664 113191216 0.94 [{'connected_gene': 'GC12M113186', 'score': 550.77}, {'connected_gene': 'ENSG00000257286', 'score': 550.77}, {'connected_gene': 'RITA1', 'score': 13.06}]
chr12 GH12I113203 113203988 113205531 1.08 [{'connected_gene': 'GC12M113206', 'score': 550.77}, {'connected_gene': 'RASAL1', 'score': 12.42}, {'connected_gene': 'RITA1', 'score': 11.27}, {'connected_gene': 'ENSG00000257286', 'score': 0.39}, {'connected_gene': 'IQCD', 'score': 0.37}]
chr12 GH12I113207 113207401 113210010 1.31 [{'connected_gene': 'PIR32722', 'score': 550.77}, {'connected_gene': 'PIR32241', 'score': 550.77}, {'connected_gene': 'GC12M113226', 'score': 550.77}, {'connected_gene': 'PIR59579', 'score': 550.77}, {'connected_gene': 'RASAL1', 'score': 12.42}, {'connected_gene': 'OAS1', 'score': 11.8}, {'connected_gene': 'RITA1', 'score': 10.33}, {'connected_gene': 'IQCD', 'score': 0.39}, {'connected_gene': 'TPCN1', 'score': 0.39}]
chr12 GH12I113062 113062141 113062864 1.09 [{'connected_gene': 'ENSG00000201208', 'score': 10.8}, {'connected_gene': 'DDX54', 'score': 10.8}, {'connected_gene': 'RITA1', 'score': 10.8}, {'connected_gene': 'OAS3', 'score': 4.24}, {'connected_gene': 'DTX1', 'score': 0.44}, {'connected_gene': 'GC12P113070', 'score': 0.44}]
chr12 GH12I113066 113066378 113067825 0.52 [{'connected_gene': 'ENSG00000201208', 'score': 11.57}, {'connected_gene': 'DDX54', 'score': 11.56}, {'connected_gene': 'RITA1', 'score': 11.56}, {'connected_gene': 'CFAP73', 'score': 11.52}, {'connected_gene': 'DTX1', 'score': 5.37}, {'connected_gene': 'GC12P113070', 'score': 0.77}]
chr12 GH12I113064 113064838 113066236 1.39 [{'connected_gene': 'ENSG00000201208', 'score': 11.57}, {'connected_gene': 'DDX54', 'score': 11.56}, {'connected_gene': 'RITA1', 'score': 11.56}, {'connected_gene': 'CFAP73', 'score': 11.52}, {'connected_gene': 'DTX1', 'score': 4.11}, {'connected_gene': 'GC12P113070', 'score': 0.77}]
chr12 GH12I113154 113154135 113155100 0.74 [{'connected_gene': 'ENSG00000201208', 'score': 11.72}, {'connected_gene': 'DDX54', 'score': 11.67}, {'connected_gene': 'RITA1', 'score': 11.67}, {'connected_gene': 'ENSG00000199899', 'score': 0.77}, {'connected_gene': 'GC12M113158', 'score': 0.77}, {'connected_gene': 'CFAP73', 'score': 0.44}]
chr12 GH12I113063 113062876 113063025 0.8 [{'connected_gene': 'ENSG00000201208', 'score': 10.8}, {'connected_gene': 'DDX54', 'score': 10.8}, {'connected_gene': 'RITA1', 'score': 10.8}, {'connected_gene': 'DTX1', 'score': 0.44}, {'connected_gene': 'GC12P113070', 'score': 0.44}]
chr12 GH12I112992 112992746 112993359 0.74 [{'connected_gene': 'GC12M112989', 'score': 550.77}, {'connected_gene': 'OAS3', 'score': 25.62}, {'connected_gene': 'ENSG00000201208', 'score': 10.35}, {'connected_gene': 'RITA1', 'score': 10.35}, {'connected_gene': 'DDX54', 'score': 10.35}, {'connected_gene': 'GC12M112995', 'score': 0.77}, {'connected_gene': 'ENSG00000257452', 'score': 0.34}, {'connected_gene': 'OAS2', 'score': 0.34}]
chr12 GH12I112988 112988316 112988465 0.38 [{'connected_gene': 'GC12M112984', 'score': 550.77}, {'connected_gene': 'OAS3', 'score': 11.04}, {'connected_gene': 'ENSG00000201208', 'score': 10.35}, {'connected_gene': 'DDX54', 'score': 10.35}, {'connected_gene': 'RITA1', 'score': 10.35}, {'connected_gene': 'GC12M112989', 'score': 0.77}, {'connected_gene': 'OAS2', 'score': 0.37}, {'connected_gene': 'ENSG00000257452', 'score': 0.31}]
chr12 GH12I113250 113250239 113250687 0.2 [{'connected_gene': 'ENSG00000277566', 'score': 550.77}, {'connected_gene': 'IQCD', 'score': 12.01}, {'connected_gene': 'TPCN1', 'score': 12.01}, {'connected_gene': 'DDX54', 'score': 11.2}, {'connected_gene': 'RITA1', 'score': 11.2}, {'connected_gene': 'ENSG00000201208', 'score': 11.19}, {'connected_gene': 'PLBD2', 'score': 10.52}, {'connected_gene': 'GC12M113256', 'score': 0.34}]
chr12 GH12I113270 113270881 113273195 1.51 [{'connected_gene': 'GC12M113256', 'score': 550.77}, {'connected_gene': 'SDSL', 'score': 19.16}, {'connected_gene': 'RASAL1', 'score': 13.23}, {'connected_gene': 'RITA1', 'score': 11.9}, {'connected_gene': 'SLC8B1', 'score': 10.88}, {'connected_gene': 'RBM19', 'score': 9.7}, {'connected_gene': 'OAS2', 'score': 3.59}, {'connected_gene': 'OAS3', 'score': 3.12}, {'connected_gene': 'OAS1', 'score': 2.39}, {'connected_gene': 'PLBD2', 'score': 1.53}, {'connected_gene': 'SDS', 'score': 1.28}, {'connected_gene': 'GC12P113288', 'score': 0.37}, {'connected_gene': 'TPCN1', 'score': 0.23}]

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