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
ENST00000486542 [[13480483, 13481497], [13489265, 13489316], [13494538, 13494658], [13501504, 13502083]] None
ENST00000396900 [[13480500, 13481497], [13489265, 13489316], [13494538, 13494658], [13522898, 13523124], [13534610, 13534876], [13538765, 13538888], [13541777, 13542080], [13568137, 13568221], [13570472, 13570533]] [[13481171, 13481497], [13489265, 13489316], [13494538, 13494658], [13522898, 13523124], [13534610, 13534876], [13538765, 13538888], [13541777, 13542080], [13568137, 13568221], [13570472, 13570533]]
ENST00000341083 [[13480636, 13481497], [13489265, 13489319], [13494538, 13494658], [13522898, 13523124], [13534610, 13534876], [13538765, 13538888], [13541777, 13542080], [13542509, 13542679], [13544860, 13544976]] [[13481171, 13481497], [13489265, 13489319], [13494538, 13494658], [13522898, 13523124], [13534610, 13534876], [13538765, 13538888], [13541777, 13542069]]
ENST00000440282 [[13483087, 13489316], [13494538, 13494658], [13522898, 13523073]] [[13489257, 13489316], [13494538, 13494658], [13522898, 13523073]]
ENST00000396898 [[13483089, 13483750], [13489265, 13489316], [13494538, 13494658], [13522898, 13523124], [13534610, 13534876], [13538765, 13538888], [13541738, 13542080], [13568137, 13568221], [13570472, 13570533]] [[13483742, 13483750], [13489265, 13489316], [13494538, 13494658], [13522898, 13523124], [13534610, 13534876], [13538765, 13538888], [13541738, 13542080], [13568137, 13568221], [13570472, 13570533]]
ENST00000378605 [[13483354, 13483750], [13489265, 13489316], [13494538, 13494658], [13522898, 13523124], [13534610, 13534876], [13538765, 13538888], [13541738, 13542080], [13544860, 13544945]] [[13483742, 13483750], [13489265, 13489316], [13494538, 13494658], [13522898, 13523124], [13534610, 13534876], [13538765, 13538888], [13541738, 13542069]]
ENST00000469555 [[13487315, 13487560], [13488484, 13488541], [13489265, 13489316], [13494538, 13494658], [13522898, 13522976]] None
ENST00000480703 [[13484979, 13485403], [13489265, 13489319], [13494538, 13494614]] None
ENST00000463303 [[13487289, 13487560], [13489265, 13489316], [13494538, 13494637]] None
ENST00000492675 [[13534691, 13534876], [13538765, 13538929]] None
ENST00000466271 [[13538787, 13538888], [13541777, 13542080], [13568137, 13568221], [13570472, 13570974]] None
NM_152751 [[13480483, 13481497], [13489265, 13489319], [13494538, 13494658], [13522898, 13523124], [13534610, 13534876], [13538765, 13538888], [13541777, 13542080], [13542509, 13542679], [13544860, 13544976]] [[13481171, 13481497], [13489265, 13489319], [13494538, 13494658], [13522898, 13523124], [13534610, 13534876], [13538765, 13538888], [13541777, 13542069]]
NM_001100912 [[13483087, 13483750], [13489265, 13489316], [13494538, 13494658], [13522898, 13523124], [13534610, 13534876], [13538765, 13538888], [13541738, 13542080], [13544860, 13544976]] [[13483742, 13483750], [13489265, 13489316], [13494538, 13494658], [13522898, 13523124], [13534610, 13534876], [13538765, 13538888], [13541738, 13542069]]
Promoter
Chrom Start End Description
chr10 13570942 13570970 CAGE_peak_2_at_BEND7_5end
chr10 13570971 13571042 CAGE_peak_1_at_BEND7_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I013536 13536821 13537010 0.76 [{'connected_gene': 'PRPF18', 'score': 11.42}, {'connected_gene': 'ENSG00000239665', 'score': 11.34}, {'connected_gene': 'BEND7', 'score': 7.03}, {'connected_gene': 'LOC105376422', 'score': 0.39}, {'connected_gene': 'GC10M013518', 'score': 0.17}]
chr10 GH10I013450 13450221 13450370 0.43 [{'connected_gene': 'SEPHS1', 'score': 11.77}, {'connected_gene': 'LOC105376420', 'score': 0.28}, {'connected_gene': 'ENSG00000202508', 'score': 0.21}, {'connected_gene': 'BEND7', 'score': 0.18}]
chr10 GH10I013537 13537692 13538448 0.65 [{'connected_gene': 'BEND7', 'score': 14.61}, {'connected_gene': 'ENSG00000273474', 'score': 11.27}, {'connected_gene': 'SEPHS1', 'score': 10.97}, {'connected_gene': 'PRPF18', 'score': 10.37}, {'connected_gene': 'LOC105376422', 'score': 0.39}, {'connected_gene': 'GC10M013518', 'score': 0.17}]
chr10 GH10I013550 13550932 13551014 0.33 [{'connected_gene': 'BEND7', 'score': 22.78}, {'connected_gene': 'LOC105376422', 'score': 0.77}, {'connected_gene': 'PRPF18', 'score': 0.28}, {'connected_gene': 'GC10M013518', 'score': 0.19}]
chr10 GH10I013439 13439801 13440888 1.03 [{'connected_gene': 'BEND7', 'score': 19.42}, {'connected_gene': 'LOC105376421', 'score': 12.12}, {'connected_gene': 'SEPHS1', 'score': 11.52}, {'connected_gene': 'LOC105376420', 'score': 0.31}, {'connected_gene': 'ENSG00000202508', 'score': 0.19}]
chr10 GH10I013526 13526621 13529679 1.31 [{'connected_gene': 'BEND7', 'score': 558.67}, {'connected_gene': 'LOC105376421', 'score': 550.77}, {'connected_gene': 'PIR36354', 'score': 0.77}, {'connected_gene': 'GC10M013518', 'score': 0.15}]
chr10 GH10I013499 13499734 13500973 0.71 [{'connected_gene': 'BEND7', 'score': 7.32}, {'connected_gene': 'ENSG00000202508', 'score': 0.39}, {'connected_gene': 'LOC105376420', 'score': 0.17}]
chr10 GH10I013502 13502942 13503001 0.68 [{'connected_gene': 'BEND7', 'score': 550.31}, {'connected_gene': 'ENSG00000202508', 'score': 0.44}, {'connected_gene': 'LOC105376420', 'score': 0.17}]
chr10 GH10I013557 13557081 13557230 0.78 [{'connected_gene': 'LOC105376421', 'score': 12.17}, {'connected_gene': 'BEND7', 'score': 12.17}, {'connected_gene': 'PRPF18', 'score': 12.09}, {'connected_gene': 'ENSG00000239665', 'score': 11.97}, {'connected_gene': 'LOC105376422', 'score': 0.44}, {'connected_gene': 'GC10M013518', 'score': 0.2}]
chr10 GH10I013503 13503881 13504030 0.46 [{'connected_gene': 'ENSG00000202508', 'score': 0.44}, {'connected_gene': 'BEND7', 'score': 0.31}, {'connected_gene': 'LOC105376420', 'score': 0.16}]
chr10 GH10I013483 13483577 13484343 0.31 [{'connected_gene': 'ENSG00000202508', 'score': 0.31}, {'connected_gene': 'BEND7', 'score': 0.25}, {'connected_gene': 'LOC105376420', 'score': 0.19}]
chr10 GH10I013484 13483288 13483350 0.56 [{'connected_gene': 'ENSG00000202508', 'score': 0.31}, {'connected_gene': 'BEND7', 'score': 0.25}, {'connected_gene': 'LOC105376420', 'score': 0.2}]
chr10 GH10I013525 13525664 13525867 0.69 [{'connected_gene': 'PIR36354', 'score': 550.77}, {'connected_gene': 'LOC105376421', 'score': 0.77}, {'connected_gene': 'BEND7', 'score': 0.77}, {'connected_gene': 'GC10M013518', 'score': 0.15}]

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