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
ENST00000297313 [[54764367, 54764624], [54791817, 54792162], [54852135, 54852284], [54859224, 54859308], [54866635, 54866870], [54870829, 54871863]] [[54764459, 54764624], [54791817, 54792162], [54852135, 54852284], [54859224, 54859308], [54866635, 54866870], [54870829, 54871018]]
ENST00000523280 [[54764459, 54764624], [54866635, 54866870], [54870829, 54871863]] [[54764459, 54764624], [54866635, 54866683]]
ENST00000517659 [[54764459, 54764624], [54859224, 54859308], [54866635, 54866870], [54870829, 54871863]] [[54764459, 54764624], [54859224, 54859236]]
ENST00000344277 [[54764459, 54764624], [54852135, 54852284], [54859224, 54859308], [54866635, 54866870], [54870829, 54871863]] [[54764459, 54764624], [54852135, 54852284], [54859224, 54859308], [54866635, 54866870], [54870829, 54871018]]
ENST00000518286 [[54792443, 54792598], [54852135, 54852284], [54859224, 54859308], [54866635, 54866702]] None
ENST00000523414 [[54792559, 54792846], [54852135, 54852284], [54859224, 54859308], [54866635, 54866783]] None
ENST00000522225 [[54793431, 54793644], [54859224, 54859308], [54866635, 54866870], [54870829, 54871856]] [[54866690, 54866870], [54870829, 54871018]]
ENST00000276500 [[54793453, 54793644], [54852135, 54852284], [54859224, 54859308], [54866635, 54866870], [54870829, 54871834]] [[54793575, 54793644], [54852135, 54852284], [54859224, 54859308], [54866635, 54866870], [54870829, 54871018]]
ENST00000523064 [[54793460, 54793644], [54826056, 54826482]] None
ENST00000517405 [[54857884, 54857930], [54859224, 54859308], [54866635, 54866870], [54870829, 54871257]] None
NM_001286674 [[54764367, 54764624], [54866635, 54866870], [54870829, 54871864]] [[54764589, 54764624], [54866635, 54866870], [54870829, 54871018]]
NM_001286675 [[54764367, 54764624], [54859224, 54859308], [54866635, 54866870], [54870829, 54871864]] [[54764589, 54764624], [54859224, 54859308], [54866635, 54866870], [54870829, 54871018]]
NM_001286673 [[54764367, 54764624], [54852135, 54852284], [54859224, 54859308], [54866635, 54866870], [54870829, 54871864]] [[54764459, 54764624], [54852135, 54852284], [54859224, 54859308], [54866635, 54866870], [54870829, 54871018]]
NM_170587 [[54764367, 54764624], [54791817, 54792162], [54852135, 54852284], [54859224, 54859308], [54866635, 54866870], [54870829, 54871864]] [[54764459, 54764624], [54791817, 54792162], [54852135, 54852284], [54859224, 54859308], [54866635, 54866870], [54870829, 54871018]]
NR_104578 [[54793431, 54793644], [54826056, 54826482]] None
NR_104579 [[54793431, 54793644], [54859224, 54859308], [54866635, 54866870], [54870829, 54871864]] None
NM_003702 [[54793431, 54793644], [54852135, 54852284], [54859224, 54859308], [54866635, 54866870], [54870829, 54871864]] [[54793575, 54793644], [54852135, 54852284], [54859224, 54859308], [54866635, 54866870], [54870829, 54871018]]
Promoter
Chrom Start End Description
chr8 54764346 54764356 CAGE_peak_18_at_RGS20_5end
chr8 54792564 54792638 CAGE_peak_2_at_RGS20_5end
chr8 54792661 54792674 CAGE_peak_9_at_RGS20_5end
chr8 54793425 54793437 CAGE_peak_6_at_RGS20_5end
chr8 54793456 54793478 CAGE_peak_4_at_RGS20_5end
chr8 54793480 54793503 CAGE_peak_5_at_RGS20_5end
chr8 54793565 54793588 CAGE_peak_1_at_RGS20_5end
chr8 54793591 54793617 CAGE_peak_3_at_RGS20_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I054143 54143065 54144516 0.2 [{'connected_gene': 'RGS20', 'score': 10.01}, {'connected_gene': 'ATP6V1H', 'score': 9.96}, {'connected_gene': 'TCEA1', 'score': 6.28}, {'connected_gene': 'ENSG00000253369', 'score': 4.19}, {'connected_gene': 'MRPL15', 'score': 0.44}, {'connected_gene': 'RNU6ATAC32P', 'score': 0.44}]
chr8 GH08I053851 53851746 53851805 0.84 [{'connected_gene': 'RGS20', 'score': 550.77}, {'connected_gene': 'ATP6V1H', 'score': 0.44}]
chr8 GH08I053747 53747324 53747551 0.22 [{'connected_gene': 'RGS20', 'score': 10.49}, {'connected_gene': 'GC08M053742', 'score': 0.77}, {'connected_gene': 'GC08M053723', 'score': 0.37}, {'connected_gene': 'ATP6V1H', 'score': 0.15}]
chr8 GH08I053879 53879341 53887604 2.49 [{'connected_gene': 'RGS20', 'score': 550.29}, {'connected_gene': 'LOC100131254', 'score': 29.05}, {'connected_gene': 'RPS27AP13', 'score': 0.77}, {'connected_gene': 'ENSG00000272457', 'score': 0.44}]
chr8 GH08I053807 53807497 53808101 0.49 [{'connected_gene': 'ATP6V1H', 'score': 22.38}, {'connected_gene': 'RGS20', 'score': 10.74}, {'connected_gene': 'TCEA1', 'score': 10.43}, {'connected_gene': 'GC08P053812', 'score': 0.77}, {'connected_gene': 'GC08P053789', 'score': 0.37}]
chr8 GH08I054011 54011321 54011470 0.49 [{'connected_gene': 'ATP6V1H', 'score': 11.25}, {'connected_gene': 'RGS20', 'score': 10.8}, {'connected_gene': 'MRPL15', 'score': 10.77}, {'connected_gene': 'RNU6-1331P', 'score': 10.54}, {'connected_gene': 'GC08M054012', 'score': 0.77}, {'connected_gene': 'TCEA1', 'score': 0.39}, {'connected_gene': 'GC08P053986', 'score': 0.31}]
chr8 GH08I053815 53815481 53815590 0.49 [{'connected_gene': 'ATP6V1H', 'score': 11.43}, {'connected_gene': 'RGS20', 'score': 11.02}, {'connected_gene': 'GC08P053812', 'score': 0.77}, {'connected_gene': 'GC08P053833', 'score': 0.37}]
chr8 GH08I053867 53867572 53868442 0.31 [{'connected_gene': 'ATP6V1H', 'score': 12.13}, {'connected_gene': 'ENSG00000272457', 'score': 0.44}, {'connected_gene': 'RGS20', 'score': 0.37}]
chr8 GH08I053904 53904389 53907346 0.89 [{'connected_gene': 'ATP6V1H', 'score': 10.59}, {'connected_gene': 'GC08P053915', 'score': 0.44}, {'connected_gene': 'RPS27AP13', 'score': 0.37}, {'connected_gene': 'RGS20', 'score': 0.23}]
chr8 GH08I053953 53953697 53954795 0.31 [{'connected_gene': 'GC08P053957', 'score': 0.77}, {'connected_gene': 'GC08P053923', 'score': 0.29}, {'connected_gene': 'RGS20', 'score': 0.15}]
chr8 GH08I053942 53942996 53947025 1.29 [{'connected_gene': 'ENSG00000253369', 'score': 4.64}, {'connected_gene': 'GC08P053957', 'score': 0.39}, {'connected_gene': 'GC08P053923', 'score': 0.34}, {'connected_gene': 'RGS20', 'score': 0.16}]
chr8 GH08I053956 53956881 53957971 0.31 [{'connected_gene': 'GC08P053957', 'score': 550.77}, {'connected_gene': 'GC08P053923', 'score': 0.29}, {'connected_gene': 'RGS20', 'score': 0.14}]
chr8 GH08I053938 53938941 53939090 0.2 [{'connected_gene': 'GC08P053957', 'score': 0.37}, {'connected_gene': 'GC08P053923', 'score': 0.37}, {'connected_gene': 'RGS20', 'score': 0.17}]
chr8 GH08I054105 54105690 54107346 1.03 [{'connected_gene': 'PIR33175', 'score': 550.77}, {'connected_gene': 'MRPL15', 'score': 13.16}, {'connected_gene': 'TCEA1', 'score': 11.02}, {'connected_gene': 'RGS20', 'score': 10.02}, {'connected_gene': 'ATP6V1H', 'score': 1.4}, {'connected_gene': 'LYPLA1', 'score': 0.77}]
chr8 GH08I053876 53876701 53876814 0.31 [{'connected_gene': 'ENSG00000272457', 'score': 550.77}, {'connected_gene': 'RPS27AP13', 'score': 0.39}, {'connected_gene': 'RGS20', 'score': 0.34}]
chr8 GH08I053877 53877145 53878246 1.02 [{'connected_gene': 'ENSG00000272457', 'score': 550.77}, {'connected_gene': 'RPS27AP13', 'score': 0.44}, {'connected_gene': 'RGS20', 'score': 0.31}]
chr8 GH08I053880 53879190 53879230 0.38 [{'connected_gene': 'ENSG00000272457', 'score': 0.77}, {'connected_gene': 'RPS27AP13', 'score': 0.44}, {'connected_gene': 'RGS20', 'score': 0.31}]