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
ENST00000361717 [[113195697, 113199590], [113206795, 113207059]] [[113199017, 113199572]]
ENST00000500655 [[113198914, 113199590], [113202836, 113202929]] [[113199017, 113199572]]
NM_052864 [[113196781, 113199590], [113206795, 113207059]] [[113199017, 113199572]]
Promoter
Chrom Start End Description
chr4 113206913 113206931 CAGE_peak_3_at_TIFA_5end
chr4 113207001 113207043 CAGE_peak_2_at_TIFA_5end
chr4 113207048 113207076 CAGE_peak_1_at_TIFA_5end
chr4 113207277 113207292 CAGE_peak_10_at_TIFA_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I112282 112282560 112290146 2.5 [{'connected_gene': 'TIFA', 'score': 576.63}, {'connected_gene': 'ALPK1', 'score': 552.4}, {'connected_gene': 'FAM241A', 'score': 14.45}, {'connected_gene': 'AP1AR', 'score': 14.02}, {'connected_gene': 'LOC109864269', 'score': 13.4}, {'connected_gene': 'ENSG00000250966', 'score': 11.17}, {'connected_gene': 'RTEL1P1', 'score': 5.38}, {'connected_gene': 'LARP7', 'score': 2.98}, {'connected_gene': 'ZGRF1', 'score': 1.4}, {'connected_gene': 'GC04P112321', 'score': 0.28}]
chr4 GH04I112302 112301222 112301750 0.4 [{'connected_gene': 'TIFA', 'score': 0.37}, {'connected_gene': 'ALPK1', 'score': 0.37}, {'connected_gene': 'GC04P112321', 'score': 0.34}]
chr4 GH04I112311 112311929 112313782 1.44 [{'connected_gene': 'TIFA', 'score': 12.72}, {'connected_gene': 'AP1AR', 'score': 6.38}, {'connected_gene': 'ALPK1', 'score': 4.04}, {'connected_gene': 'LARP7', 'score': 2.31}, {'connected_gene': 'GC04P112321', 'score': 0.44}]
chr4 GH04I112279 112279111 112280600 1.46 [{'connected_gene': 'TIFA', 'score': 20.7}, {'connected_gene': 'FAM241A', 'score': 10.52}, {'connected_gene': 'ENSG00000272567', 'score': 0.44}, {'connected_gene': 'ALPK1', 'score': 0.44}]
chr4 GH04I112276 112276642 112278687 0.77 [{'connected_gene': 'TIFA', 'score': 20.0}, {'connected_gene': 'FAM241A', 'score': 10.52}, {'connected_gene': 'ENSG00000272567', 'score': 0.77}, {'connected_gene': 'ALPK1', 'score': 0.44}]
chr4 GH04I112259 112259862 112260150 0.22 [{'connected_gene': 'TIFA', 'score': 17.58}, {'connected_gene': 'FAM241A', 'score': 10.56}, {'connected_gene': 'LOC105377372', 'score': 9.89}, {'connected_gene': 'NEUROG2', 'score': 9.89}, {'connected_gene': 'ZGRF1', 'score': 5.02}, {'connected_gene': 'AP1AR', 'score': 4.71}, {'connected_gene': 'ENSG00000272567', 'score': 0.39}]
chr4 GH04I111678 111678159 111679692 0.31 [{'connected_gene': 'TIFA', 'score': 4.84}, {'connected_gene': 'GC04M111667', 'score': 0.44}, {'connected_gene': 'GC04M111676', 'score': 0.39}]
chr4 GH04I112296 112296524 112298672 2.08 [{'connected_gene': 'ALPK1', 'score': 550.39}, {'connected_gene': 'TIFA', 'score': 0.39}, {'connected_gene': 'GC04P112321', 'score': 0.34}]
chr4 GH04I112230 112230178 112233893 2.29 [{'connected_gene': 'AP1AR', 'score': 550.77}, {'connected_gene': 'ENSG00000260526', 'score': 550.77}, {'connected_gene': 'TIFA', 'score': 17.09}, {'connected_gene': 'LOC109864269', 'score': 13.39}, {'connected_gene': 'ZGRF1', 'score': 11.59}, {'connected_gene': 'LARP7', 'score': 11.08}, {'connected_gene': 'ENSG00000272567', 'score': 0.26}]
chr4 GH04I112082 112082416 112085863 1.27 [{'connected_gene': 'FAM241A', 'score': 16.69}, {'connected_gene': 'TIFA', 'score': 2.01}, {'connected_gene': 'TUBB8P3', 'score': 0.44}, {'connected_gene': 'RPS12P8', 'score': 0.29}]
chr4 GH04I112213 112213708 112215000 0.84 [{'connected_gene': 'FAM241A', 'score': 19.03}, {'connected_gene': 'TIFA', 'score': 4.47}, {'connected_gene': 'ENSG00000260526', 'score': 0.37}, {'connected_gene': 'GC04P112172', 'score': 0.26}]
chr4 GH04I111990 111990991 111992517 1.22 [{'connected_gene': 'FAM241A', 'score': 14.58}, {'connected_gene': 'AP1AR', 'score': 2.61}, {'connected_gene': 'TIFA', 'score': 1.61}, {'connected_gene': 'PIR60785', 'score': 0.39}, {'connected_gene': 'ENSG00000249815', 'score': 0.18}, {'connected_gene': 'LOC105377369', 'score': 0.11}]
chr4 GH04I112144 112144807 112148138 2.19 [{'connected_gene': 'FAM241A', 'score': 578.8}, {'connected_gene': 'ZGRF1', 'score': 5.53}, {'connected_gene': 'TIFA', 'score': 4.23}, {'connected_gene': 'LARP7', 'score': 3.26}, {'connected_gene': 'AP1AR', 'score': 3.23}, {'connected_gene': 'RPL36AP19', 'score': 0.34}]
chr4 GH04I112315 112315401 112317000 0.2 [{'connected_gene': 'LOC105377372', 'score': 11.49}, {'connected_gene': 'NEUROG2', 'score': 11.49}, {'connected_gene': 'GC04P112321', 'score': 0.44}, {'connected_gene': 'TIFA', 'score': 0.29}, {'connected_gene': 'ALPK1', 'score': 0.29}]
chr4 GH04I112317 112317760 112319787 0.71 [{'connected_gene': 'LOC105377372', 'score': 11.49}, {'connected_gene': 'NEUROG2', 'score': 11.49}, {'connected_gene': 'GC04P112321', 'score': 0.77}, {'connected_gene': 'TIFA', 'score': 0.29}, {'connected_gene': 'ALPK1', 'score': 0.29}]
chr4 GH04I112301 112301881 112303425 0.86 [{'connected_gene': 'GC04P112321', 'score': 0.37}, {'connected_gene': 'TIFA', 'score': 0.37}, {'connected_gene': 'ALPK1', 'score': 0.37}]
chr4 GH04I112309 112309075 112309850 0.77 [{'connected_gene': 'GC04P112321', 'score': 0.39}, {'connected_gene': 'TIFA', 'score': 0.34}, {'connected_gene': 'ALPK1', 'score': 0.34}]
chr4 GH04I112272 112272865 112274442 0.89 [{'connected_gene': 'ENSG00000272567', 'score': 550.77}, {'connected_gene': 'TIFA', 'score': 18.9}, {'connected_gene': 'FAM241A', 'score': 10.41}, {'connected_gene': 'ALPK1', 'score': 0.39}]
chr4 GH04I112168 112168865 112171695 1.12 [{'connected_gene': 'GC04P112172', 'score': 550.77}, {'connected_gene': 'RPL36AP19', 'score': 550.77}, {'connected_gene': 'FAM241A', 'score': 26.62}, {'connected_gene': 'TIFA', 'score': 4.15}]