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
ENST00000555895 [[23485751, 23485844], [23502576, 23502883], [23503892, 23503936]] [[23485839, 23485844], [23502576, 23502883], [23503892, 23503936]]
ENST00000361611 [[23495059, 23495584], [23502576, 23502883], [23503892, 23504354]] [[23495297, 23495584], [23502576, 23502883], [23503892, 23504090]]
ENST00000493471 [[23495066, 23495584], [23496953, 23497038], [23502576, 23502883], [23503892, 23504099]] [[23495562, 23495584], [23496953, 23497038], [23502576, 23502883], [23503892, 23504090]]
ENST00000460922 [[23495066, 23495584], [23503892, 23504103]] [[23495527, 23495584], [23503892, 23504090]]
ENST00000425762 [[23495110, 23495584], [23502576, 23502883], [23504320, 23504439]] [[23495297, 23495584], [23502576, 23502772]]
ENST00000334454 [[23495505, 23495584], [23502576, 23502883], [23503684, 23504094]] [[23503856, 23504090]]
NM_001144932 [[23495059, 23495584], [23496953, 23497038], [23502576, 23502883], [23503892, 23504354]] [[23495562, 23495584], [23496953, 23497038], [23502576, 23502883], [23503892, 23504090]]
NM_002797 [[23495059, 23495584], [23502576, 23502883], [23503892, 23504354]] [[23495297, 23495584], [23502576, 23502883], [23503892, 23504090]]
NM_001130725 [[23495059, 23495584], [23502576, 23502883], [23504320, 23504429]] [[23495297, 23495584], [23502576, 23502772]]
Promoter
Chrom Start End Description
chr14 23504087 23504118 CAGE_peak_1_at_PSMB5_5end
chr14 23504337 23504369 CAGE_peak_2_at_PSMB5_5end
chr14 23504432 23504448 CAGE_peak_3_at_PSMB5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I022789 22789086 22792778 1.58 [{'connected_gene': 'SLC7A7', 'score': 12.48}, {'connected_gene': 'PSMB5', 'score': 5.04}, {'connected_gene': 'RBM23', 'score': 5.0}, {'connected_gene': 'LRP10', 'score': 4.64}, {'connected_gene': 'ACIN1', 'score': 1.89}, {'connected_gene': 'C14orf119', 'score': 1.16}, {'connected_gene': 'ENSG00000258458', 'score': 0.34}]
chr14 GH14I022976 22976101 22983710 2.7 [{'connected_gene': 'AJUBA', 'score': 559.71}, {'connected_gene': 'ACIN1', 'score': 200.69}, {'connected_gene': 'NGDN', 'score': 160.15}, {'connected_gene': 'PRMT5', 'score': 113.21}, {'connected_gene': 'C14orf93', 'score': 102.87}, {'connected_gene': 'HAUS4', 'score': 99.95}, {'connected_gene': 'RBM23', 'score': 96.86}, {'connected_gene': 'LOC102724814', 'score': 66.99}, {'connected_gene': 'PABPN1', 'score': 57.08}, {'connected_gene': 'MMP14', 'score': 56.15}, {'connected_gene': 'SLC22A17', 'score': 39.22}, {'connected_gene': 'C14orf119', 'score': 31.52}, {'connected_gene': 'CDH24', 'score': 31.24}, {'connected_gene': 'HOMEZ', 'score': 26.97}, {'connected_gene': 'ABHD4', 'score': 19.32}, {'connected_gene': 'PSMB5', 'score': 15.09}, {'connected_gene': 'JPH4', 'score': 12.72}, {'connected_gene': 'ENSG00000258458', 'score': 11.41}, {'connected_gene': 'PSMB11', 'score': 11.06}, {'connected_gene': 'ZFHX2', 'score': 10.73}, {'connected_gene': 'THTPA', 'score': 10.69}, {'connected_gene': 'ENSG00000258457', 'score': 10.44}, {'connected_gene': 'PRMT5-AS1', 'score': 10.07}, {'connected_gene': 'BCL2L2-PABPN1', 'score': 10.04}, {'connected_gene': 'BCL2L2', 'score': 10.02}, {'connected_gene': 'MRPL52', 'score': 4.28}, {'connected_gene': 'ENSG00000259132', 'score': 0.77}]
chr14 GH14I022997 22997285 22997701 0.86 [{'connected_gene': 'CDH24', 'score': 15.06}, {'connected_gene': 'PSMB5', 'score': 11.95}, {'connected_gene': 'PSMB11', 'score': 11.94}, {'connected_gene': 'PRMT5', 'score': 10.87}, {'connected_gene': 'C14orf119', 'score': 9.8}, {'connected_gene': 'ACIN1', 'score': 9.72}, {'connected_gene': 'CEBPE', 'score': 8.95}, {'connected_gene': 'C14orf93', 'score': 1.78}, {'connected_gene': 'ENSG00000280129', 'score': 0.44}, {'connected_gene': 'GC14P024213', 'score': 0.39}, {'connected_gene': 'ENSG00000258457', 'score': 0.39}]
chr14 GH14I022995 22995757 22996363 0.38 [{'connected_gene': 'CDH24', 'score': 12.09}, {'connected_gene': 'PSMB5', 'score': 12.01}, {'connected_gene': 'PSMB11', 'score': 11.98}, {'connected_gene': 'PRMT5', 'score': 10.91}, {'connected_gene': 'ACIN1', 'score': 10.33}, {'connected_gene': 'C14orf119', 'score': 10.14}, {'connected_gene': 'CEBPE', 'score': 9.92}, {'connected_gene': 'GC14P024213', 'score': 0.44}, {'connected_gene': 'ENSG00000280129', 'score': 0.39}, {'connected_gene': 'C14orf93', 'score': 0.39}, {'connected_gene': 'ENSG00000258457', 'score': 0.39}]
chr14 GH14I023033 23033297 23036119 2.28 [{'connected_gene': 'PSMB5', 'score': 559.4}, {'connected_gene': 'HAUS4', 'score': 13.67}, {'connected_gene': 'ENSG00000279656', 'score': 0.39}]
chr14 GH14I023021 23020564 23020800 0.94 [{'connected_gene': 'HAUS4', 'score': 21.87}, {'connected_gene': 'GC14M023017', 'score': 0.77}, {'connected_gene': 'ENSG00000279656', 'score': 0.77}, {'connected_gene': 'PSMB5', 'score': 0.39}]
chr14 GH14I022899 22899754 22900718 0.98 [{'connected_gene': 'HAUS4', 'score': 13.12}, {'connected_gene': 'LRP10', 'score': 12.78}, {'connected_gene': 'ENSG00000199716', 'score': 12.77}, {'connected_gene': 'MMP14', 'score': 11.41}, {'connected_gene': 'PRMT5', 'score': 11.36}, {'connected_gene': 'PSMB5', 'score': 10.04}, {'connected_gene': 'PSMB11', 'score': 10.03}, {'connected_gene': 'REM2', 'score': 0.37}, {'connected_gene': 'RBM23', 'score': 0.37}, {'connected_gene': 'PRMT5-AS1', 'score': 0.37}]
chr14 GH14I022903 22903168 22904064 0.97 [{'connected_gene': 'HAUS4', 'score': 53.73}, {'connected_gene': 'REM2', 'score': 12.81}, {'connected_gene': 'LRP10', 'score': 12.77}, {'connected_gene': 'ENSG00000199716', 'score': 12.75}, {'connected_gene': 'PRMT5', 'score': 11.84}, {'connected_gene': 'MMP14', 'score': 11.49}, {'connected_gene': 'SLC7A7', 'score': 11.48}, {'connected_gene': 'MRPL52', 'score': 11.48}, {'connected_gene': 'PSMB11', 'score': 10.91}, {'connected_gene': 'PSMB5', 'score': 10.91}, {'connected_gene': 'C14orf93', 'score': 9.97}, {'connected_gene': 'RBM23', 'score': 0.37}, {'connected_gene': 'PRMT5-AS1', 'score': 0.37}]
chr14 GH14I022955 22955300 22957909 2.07 [{'connected_gene': 'HAUS4', 'score': 626.89}, {'connected_gene': 'MIR4707', 'score': 550.77}, {'connected_gene': 'ACIN1', 'score': 47.22}, {'connected_gene': 'C14orf93', 'score': 33.71}, {'connected_gene': 'C14orf119', 'score': 32.65}, {'connected_gene': 'RBM23', 'score': 27.34}, {'connected_gene': 'LOC102724814', 'score': 20.7}, {'connected_gene': 'PRMT5', 'score': 13.59}, {'connected_gene': 'AJUBA', 'score': 11.53}, {'connected_gene': 'PSMB5', 'score': 11.14}, {'connected_gene': 'PSMB11', 'score': 11.12}, {'connected_gene': 'CDH24', 'score': 10.88}, {'connected_gene': 'TRR-ACG1-3', 'score': 0.31}, {'connected_gene': 'LOC101926933', 'score': 0.31}, {'connected_gene': 'ENSG00000259132', 'score': 0.31}]
chr14 GH14I022835 22835112 22840508 2.32 [{'connected_gene': 'MMP14', 'score': 562.06}, {'connected_gene': 'NGDN', 'score': 22.13}, {'connected_gene': 'ACIN1', 'score': 19.34}, {'connected_gene': 'MRPL52', 'score': 13.86}, {'connected_gene': 'LOC102724814', 'score': 12.95}, {'connected_gene': 'PRMT5', 'score': 12.39}, {'connected_gene': 'EFS', 'score': 12.37}, {'connected_gene': 'RBM23', 'score': 12.32}, {'connected_gene': 'HAUS4', 'score': 11.92}, {'connected_gene': 'C14orf93', 'score': 11.78}, {'connected_gene': 'CDH24', 'score': 11.09}, {'connected_gene': 'SLC7A8', 'score': 3.92}, {'connected_gene': 'LRP10', 'score': 2.01}, {'connected_gene': 'PSMB5', 'score': 1.38}, {'connected_gene': 'PIR54043', 'score': 0.39}]
chr14 GH14I022202 22202642 22203589 0.38 [{'connected_gene': 'TRAV26-2', 'score': 561.27}, {'connected_gene': 'PSMB5', 'score': 4.66}, {'connected_gene': 'TRAV34', 'score': 0.77}, {'connected_gene': 'TRA', 'score': 0.03}]
chr14 GH14I022188 22188399 22192262 0.49 [{'connected_gene': 'TRAV33', 'score': 550.77}, {'connected_gene': 'TRAV26-2', 'score': 10.81}, {'connected_gene': 'PSMB5', 'score': 4.85}, {'connected_gene': 'TRA', 'score': 0.03}]
chr14 GH14I022896 22896998 22899393 1.09 [{'connected_gene': 'NGDN', 'score': 14.43}, {'connected_gene': 'HAUS4', 'score': 13.55}, {'connected_gene': 'LRP10', 'score': 12.78}, {'connected_gene': 'ENSG00000199716', 'score': 12.77}, {'connected_gene': 'MMP14', 'score': 11.41}, {'connected_gene': 'PRMT5', 'score': 11.34}, {'connected_gene': 'OXA1L', 'score': 10.92}, {'connected_gene': 'AJUBA', 'score': 10.29}, {'connected_gene': 'PSMB5', 'score': 10.04}, {'connected_gene': 'PSMB11', 'score': 10.03}, {'connected_gene': 'C14orf119', 'score': 9.41}, {'connected_gene': 'REM2', 'score': 0.37}, {'connected_gene': 'RBM23', 'score': 0.34}, {'connected_gene': 'PRMT5-AS1', 'score': 0.34}]
chr14 GH14I023065 23065463 23067064 0.57 [{'connected_gene': 'NGDN', 'score': 12.86}, {'connected_gene': 'EFS', 'score': 12.4}, {'connected_gene': 'PSMB11', 'score': 12.3}, {'connected_gene': 'PSMB5', 'score': 12.26}, {'connected_gene': 'CDH24', 'score': 11.45}, {'connected_gene': 'ACIN1', 'score': 11.21}, {'connected_gene': 'C14orf93', 'score': 10.96}, {'connected_gene': 'C14orf119', 'score': 10.78}, {'connected_gene': 'AJUBA', 'score': 10.67}, {'connected_gene': 'HAUS4', 'score': 10.54}, {'connected_gene': 'RNF212B', 'score': 10.03}, {'connected_gene': 'SLC7A8', 'score': 10.03}]
chr14 GH14I023067 23067520 23073404 2.47 [{'connected_gene': 'ACIN1', 'score': 601.81}, {'connected_gene': 'C14orf93', 'score': 35.14}, {'connected_gene': 'NGDN', 'score': 26.88}, {'connected_gene': 'LOC102724814', 'score': 25.79}, {'connected_gene': 'RBM23', 'score': 25.66}, {'connected_gene': 'HAUS4', 'score': 22.09}, {'connected_gene': 'PRMT5', 'score': 18.52}, {'connected_gene': 'PSMB11', 'score': 12.28}, {'connected_gene': 'PSMB5', 'score': 12.24}, {'connected_gene': 'C14orf119', 'score': 12.02}, {'connected_gene': 'CEBPE', 'score': 10.9}, {'connected_gene': 'AJUBA', 'score': 10.77}, {'connected_gene': 'RNF212B', 'score': 10.31}, {'connected_gene': 'SLC7A8', 'score': 10.31}, {'connected_gene': 'RNU6-1138P', 'score': 9.84}, {'connected_gene': 'CDH24', 'score': 0.39}]
chr14 GH14I022996 22996886 22997130 1.09 [{'connected_gene': 'ACIN1', 'score': 36.8}, {'connected_gene': 'NGDN', 'score': 26.21}, {'connected_gene': 'CDH24', 'score': 25.02}, {'connected_gene': 'SLC22A17', 'score': 21.64}, {'connected_gene': 'PABPN1', 'score': 21.18}, {'connected_gene': 'JPH4', 'score': 12.72}, {'connected_gene': 'RBM23', 'score': 12.04}, {'connected_gene': 'PSMB5', 'score': 11.95}, {'connected_gene': 'PSMB11', 'score': 11.92}, {'connected_gene': 'PRMT5', 'score': 10.87}, {'connected_gene': 'BCL2L2', 'score': 10.02}, {'connected_gene': 'C14orf119', 'score': 9.8}, {'connected_gene': 'CEBPE', 'score': 8.95}, {'connected_gene': 'GC14P024213', 'score': 0.39}, {'connected_gene': 'C14orf93', 'score': 0.39}, {'connected_gene': 'ENSG00000280129', 'score': 0.39}, {'connected_gene': 'ENSG00000258457', 'score': 0.39}]
chr14 GH14I023060 23060637 23064904 1.08 [{'connected_gene': 'PSMB11', 'score': 12.3}, {'connected_gene': 'PSMB5', 'score': 12.28}, {'connected_gene': 'ACIN1', 'score': 11.19}, {'connected_gene': 'C14orf93', 'score': 10.97}, {'connected_gene': 'C14orf119', 'score': 10.76}, {'connected_gene': 'AJUBA', 'score': 10.67}, {'connected_gene': 'HAUS4', 'score': 10.54}, {'connected_gene': 'RNF212B', 'score': 10.03}, {'connected_gene': 'SLC7A8', 'score': 10.03}, {'connected_gene': 'CDH24', 'score': 9.3}]
chr14 GH14I023075 23075086 23077161 0.85 [{'connected_gene': 'PSMB11', 'score': 11.14}, {'connected_gene': 'PSMB5', 'score': 11.11}, {'connected_gene': 'CEBPE', 'score': 10.92}, {'connected_gene': 'C14orf93', 'score': 10.44}, {'connected_gene': 'PRMT5', 'score': 10.32}, {'connected_gene': 'RNF212B', 'score': 10.31}, {'connected_gene': 'SLC7A8', 'score': 10.31}, {'connected_gene': 'RNU6-1138P', 'score': 9.95}, {'connected_gene': 'C14orf119', 'score': 0.37}, {'connected_gene': 'ACIN1', 'score': 0.37}, {'connected_gene': 'CDH24', 'score': 0.37}]
chr14 GH14I023159 23159877 23165041 1.39 [{'connected_gene': 'CMTM5', 'score': 10.49}, {'connected_gene': 'ACIN1', 'score': 10.16}, {'connected_gene': 'RNF31', 'score': 9.82}, {'connected_gene': 'PSMB5', 'score': 5.26}, {'connected_gene': 'DHRS4L1', 'score': 4.66}, {'connected_gene': 'DHRS4L2', 'score': 4.47}, {'connected_gene': 'RNU6-1138P', 'score': 0.44}, {'connected_gene': 'SLC7A8', 'score': 0.34}]
chr14 GH14I022994 22994332 22995402 1.18 [{'connected_gene': 'PRMT5', 'score': 32.67}, {'connected_gene': 'CDH24', 'score': 12.3}, {'connected_gene': 'PSMB5', 'score': 11.99}, {'connected_gene': 'PSMB11', 'score': 11.98}, {'connected_gene': 'ACIN1', 'score': 10.33}, {'connected_gene': 'GC14P024213', 'score': 0.44}, {'connected_gene': 'ENSG00000280129', 'score': 0.39}, {'connected_gene': 'ENSG00000258457', 'score': 0.39}, {'connected_gene': 'C14orf93', 'score': 0.37}]
chr14 GH14I023028 23028342 23029574 0.52 [{'connected_gene': 'ENSG00000279656', 'score': 0.77}, {'connected_gene': 'PSMB5', 'score': 0.44}]
chr14 GH14I023020 23020912 23021061 1 [{'connected_gene': 'GC14M023017', 'score': 0.77}, {'connected_gene': 'ENSG00000279656', 'score': 0.77}, {'connected_gene': 'PSMB5', 'score': 0.39}]
chr14 GH14I023024 23024827 23026281 0.98 [{'connected_gene': 'ENSG00000279656', 'score': 550.77}, {'connected_gene': 'HAUS4', 'score': 20.93}, {'connected_gene': 'PSMB5', 'score': 7.01}]

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