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
ENST00000160298 [[7660787, 7661036], [7670111, 7670365], [7671156, 7671279], [7671361, 7671457], [7673011, 7673150], [7675361, 7675501], [7675585, 7675679], [7675762, 7675817], [7675980, 7676054], [7676402, 7676472], [7676572, 7678049], [7680068, 7680208], [7680303, 7680605], [7681408, 7681508], [7682211, 7682324], [7682428, 7682547], [7682637, 7682981]] [[7660888, 7661036], [7670111, 7670365], [7671156, 7671279], [7671361, 7671457], [7673011, 7673150], [7675361, 7675501], [7675585, 7675679], [7675762, 7675817], [7675980, 7676054], [7676402, 7676472], [7676572, 7678049], [7680068, 7680208], [7680303, 7680605], [7681408, 7681508], [7682211, 7682324], [7682428, 7682547], [7682637, 7682943]]
ENST00000446248 [[7660787, 7661036], [7670111, 7670365], [7671156, 7671279], [7671361, 7671457], [7671662, 7671695], [7672706, 7672754], [7673011, 7673150], [7675361, 7675501], [7675585, 7675679], [7675762, 7675817], [7675980, 7676054], [7676402, 7676472], [7676572, 7678049], [7680068, 7680208], [7680303, 7680605], [7681408, 7681508], [7682211, 7682324], [7682428, 7682547], [7682637, 7683190]] [[7660888, 7661036], [7670111, 7670365], [7671156, 7671279], [7671361, 7671457], [7671662, 7671695], [7672706, 7672754], [7673011, 7673150], [7675361, 7675501], [7675585, 7675679], [7675762, 7675817], [7675980, 7676054], [7676402, 7676472], [7676572, 7678049], [7680068, 7680208], [7680303, 7680605], [7681408, 7681508], [7682211, 7682324], [7682428, 7682547], [7682637, 7682943]]
ENST00000595692 [[7679519, 7680208], [7680303, 7680605], [7681408, 7681508], [7682211, 7682324], [7682428, 7682547], [7682637, 7682981]] None
ENST00000593434 [[7681291, 7681508], [7682211, 7682317]] None
NM_020902 [[7660787, 7661036], [7670111, 7670365], [7671156, 7671279], [7671361, 7671457], [7673011, 7673150], [7675361, 7675501], [7675585, 7675679], [7675762, 7675817], [7675980, 7676054], [7676402, 7676472], [7676572, 7678049], [7680068, 7680208], [7680303, 7680605], [7681408, 7681508], [7682211, 7682324], [7682428, 7682547], [7682637, 7683196]] [[7660888, 7661036], [7670111, 7670365], [7671156, 7671279], [7671361, 7671457], [7673011, 7673150], [7675361, 7675501], [7675585, 7675679], [7675762, 7675817], [7675980, 7676054], [7676402, 7676472], [7676572, 7678049], [7680068, 7680208], [7680303, 7680605], [7681408, 7681508], [7682211, 7682324], [7682428, 7682547], [7682637, 7682943]]
NM_001080429 [[7660787, 7661036], [7670111, 7670365], [7671156, 7671279], [7671361, 7671457], [7671662, 7671695], [7672706, 7672754], [7673011, 7673150], [7675361, 7675501], [7675585, 7675679], [7675762, 7675817], [7675980, 7676054], [7676402, 7676472], [7676572, 7678049], [7680068, 7680208], [7680303, 7680605], [7681408, 7681508], [7682211, 7682324], [7682428, 7682547], [7682637, 7683196]] [[7660888, 7661036], [7670111, 7670365], [7671156, 7671279], [7671361, 7671457], [7671662, 7671695], [7672706, 7672754], [7673011, 7673150], [7675361, 7675501], [7675585, 7675679], [7675762, 7675817], [7675980, 7676054], [7676402, 7676472], [7676572, 7678049], [7680068, 7680208], [7680303, 7680605], [7681408, 7681508], [7682211, 7682324], [7682428, 7682547], [7682637, 7682943]]
Promoter
Chrom Start End Description
chr19 7660534 7660552 CAGE_peak_2_at_CAMSAP3_5end
chr19 7660716 7660802 CAGE_peak_1_at_CAMSAP3_5end
chr19 7660842 7660853 CAGE_peak_3_at_CAMSAP3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I007196 7196196 7201188 1.75 [{'connected_gene': 'ZNF557', 'score': 37.07}, {'connected_gene': 'ELAVL1', 'score': 31.88}, {'connected_gene': 'XAB2', 'score': 30.76}, {'connected_gene': 'MAP2K7', 'score': 30.29}, {'connected_gene': 'KHSRP', 'score': 27.54}, {'connected_gene': 'GTF2F1', 'score': 19.69}, {'connected_gene': 'ARHGEF18', 'score': 11.19}, {'connected_gene': 'PSPN', 'score': 10.57}, {'connected_gene': 'GPR108', 'score': 10.48}, {'connected_gene': 'INSR', 'score': 6.89}, {'connected_gene': 'RETN', 'score': 5.46}, {'connected_gene': 'CAMSAP3', 'score': 2.05}, {'connected_gene': 'GC19P007214', 'score': 0.37}, {'connected_gene': 'GC19P007151', 'score': 0.25}]
chr19 GH19I007368 7368156 7369650 0.63 [{'connected_gene': 'CAMSAP3', 'score': 10.97}, {'connected_gene': 'ZNF557', 'score': 4.99}, {'connected_gene': 'NDUFA7', 'score': 4.55}, {'connected_gene': 'GC19P007378', 'score': 0.44}, {'connected_gene': 'ENSG00000263264', 'score': 0.37}, {'connected_gene': 'ARHGEF18', 'score': 0.37}]
chr19 GH19I007595 7595266 7597092 2.01 [{'connected_gene': 'CAMSAP3', 'score': 563.13}, {'connected_gene': 'XAB2', 'score': 21.22}, {'connected_gene': 'ELAVL1', 'score': 14.23}, {'connected_gene': 'HNRNPM', 'score': 13.18}, {'connected_gene': 'ZNF414', 'score': 11.89}, {'connected_gene': 'PCP2', 'score': 5.37}, {'connected_gene': 'MIR6792', 'score': 0.34}]
chr19 GH19I007367 7367115 7367244 0.63 [{'connected_gene': 'CAMSAP3', 'score': 10.97}, {'connected_gene': 'GC19P007378', 'score': 0.39}, {'connected_gene': 'ENSG00000263264', 'score': 0.37}, {'connected_gene': 'ARHGEF18', 'score': 0.37}]
chr19 GH19I007554 7554655 7555714 0.54 [{'connected_gene': 'CAMSAP3', 'score': 12.74}, {'connected_gene': 'PNPLA6', 'score': 12.08}, {'connected_gene': 'GC19M007532', 'score': 0.37}]
chr19 GH19I007551 7551035 7552084 1.36 [{'connected_gene': 'CAMSAP3', 'score': 12.74}, {'connected_gene': 'PNPLA6', 'score': 6.7}, {'connected_gene': 'GC19M007532', 'score': 0.37}]
chr19 GH19I007568 7568495 7568644 0.77 [{'connected_gene': 'CAMSAP3', 'score': 0.31}, {'connected_gene': 'GC19M007532', 'score': 0.29}]
chr19 GH19I007543 7543145 7546307 1.22 [{'connected_gene': 'MCOLN1', 'score': 14.42}, {'connected_gene': 'MCEMP1', 'score': 10.79}, {'connected_gene': 'PEX11G', 'score': 10.26}, {'connected_gene': 'PNPLA6', 'score': 9.95}, {'connected_gene': 'STXBP2', 'score': 9.14}, {'connected_gene': 'RETN', 'score': 1.48}, {'connected_gene': 'GC19M007532', 'score': 0.44}, {'connected_gene': 'CAMSAP3', 'score': 0.23}]
chr19 GH19I007589 7589959 7591205 0.66 [{'connected_gene': 'XAB2', 'score': 8.2}, {'connected_gene': 'RETN', 'score': 6.65}, {'connected_gene': 'CAMSAP3', 'score': 5.31}, {'connected_gene': 'GC19M007532', 'score': 0.23}]
chr19 GH19I007600 7600121 7600377 0.22 [{'connected_gene': 'XAB2', 'score': 12.4}, {'connected_gene': 'PET100', 'score': 12.4}, {'connected_gene': 'CD209', 'score': 11.32}, {'connected_gene': 'RPL21P129', 'score': 11.32}, {'connected_gene': 'ARHGEF18', 'score': 10.57}, {'connected_gene': 'CLEC4G', 'score': 10.52}, {'connected_gene': 'CAMSAP3', 'score': 4.68}, {'connected_gene': 'PNPLA6', 'score': 1.73}, {'connected_gene': 'INSR', 'score': 1.65}, {'connected_gene': 'MIR6792', 'score': 0.37}]
chr19 GH19I007605 7605515 7605944 0.7 [{'connected_gene': 'XAB2', 'score': 12.42}, {'connected_gene': 'PET100', 'score': 12.42}, {'connected_gene': 'RPL21P129', 'score': 11.32}, {'connected_gene': 'CD209', 'score': 11.32}, {'connected_gene': 'CLEC4G', 'score': 10.66}, {'connected_gene': 'ARHGEF18', 'score': 10.57}, {'connected_gene': 'CAMSAP3', 'score': 0.44}, {'connected_gene': 'MIR6792', 'score': 0.39}]
chr19 GH19I007602 7602208 7604746 0.63 [{'connected_gene': 'XAB2', 'score': 25.8}, {'connected_gene': 'PET100', 'score': 12.4}, {'connected_gene': 'RPL21P129', 'score': 11.32}, {'connected_gene': 'CD209', 'score': 11.32}, {'connected_gene': 'ARHGEF18', 'score': 10.57}, {'connected_gene': 'CLEC4G', 'score': 10.52}, {'connected_gene': 'PCP2', 'score': 6.87}, {'connected_gene': 'CAMSAP3', 'score': 0.44}, {'connected_gene': 'MIR6792', 'score': 0.39}]
chr19 GH19I007791 7791565 7793176 0.57 [{'connected_gene': 'CLEC4GP1', 'score': 15.03}, {'connected_gene': 'TRAPPC5', 'score': 12.63}, {'connected_gene': 'MCEMP1', 'score': 12.63}, {'connected_gene': 'RPL21P129', 'score': 12.36}, {'connected_gene': 'CD209', 'score': 12.36}, {'connected_gene': 'CLEC4G', 'score': 12.17}, {'connected_gene': 'CAMSAP3', 'score': 10.83}, {'connected_gene': 'EXOSC3P2', 'score': 0.34}]
chr19 GH19I007714 7714170 7715443 0.71 [{'connected_gene': 'CD209', 'score': 17.03}, {'connected_gene': 'TRAPPC5', 'score': 13.16}, {'connected_gene': 'MCEMP1', 'score': 13.14}, {'connected_gene': 'RPL21P129', 'score': 11.88}, {'connected_gene': 'CAMSAP3', 'score': 10.87}, {'connected_gene': 'CLEC4G', 'score': 6.8}, {'connected_gene': 'FCER2', 'score': 6.09}, {'connected_gene': 'XAB2', 'score': 5.54}, {'connected_gene': 'LOC105372262', 'score': 0.44}]
chr19 GH19I007188 7188226 7189839 1.06 [{'connected_gene': 'ARHGEF18', 'score': 10.84}, {'connected_gene': 'PEX11G', 'score': 10.21}, {'connected_gene': 'TEX45', 'score': 10.21}, {'connected_gene': 'CAMSAP3', 'score': 10.05}, {'connected_gene': 'RETN', 'score': 4.95}, {'connected_gene': 'GC19P007214', 'score': 0.31}, {'connected_gene': 'GC19P007151', 'score': 0.28}, {'connected_gene': 'INSR', 'score': 0.14}]
chr19 GH19I007187 7187970 7188119 0.66 [{'connected_gene': 'ARHGEF18', 'score': 10.83}, {'connected_gene': 'PEX11G', 'score': 10.21}, {'connected_gene': 'TEX45', 'score': 10.21}, {'connected_gene': 'CAMSAP3', 'score': 10.05}, {'connected_gene': 'GC19P007214', 'score': 0.31}, {'connected_gene': 'GC19P007151', 'score': 0.28}, {'connected_gene': 'INSR', 'score': 0.14}]
chr19 GH19I007372 7372468 7372947 0.38 [{'connected_gene': 'ARHGEF18', 'score': 19.92}, {'connected_gene': 'CAMSAP3', 'score': 10.97}, {'connected_gene': 'STXBP2', 'score': 2.46}, {'connected_gene': 'EVI5L', 'score': 2.41}, {'connected_gene': 'ZNF557', 'score': 1.47}, {'connected_gene': 'PEX11G', 'score': 1.32}, {'connected_gene': 'PNPLA6', 'score': 1.2}, {'connected_gene': 'GC19P007378', 'score': 0.44}, {'connected_gene': 'ENSG00000263264', 'score': 0.34}]
chr19 GH19I007185 7185857 7187056 0.74 [{'connected_gene': 'ARHGEF18', 'score': 10.83}, {'connected_gene': 'TEX45', 'score': 10.21}, {'connected_gene': 'PEX11G', 'score': 10.21}, {'connected_gene': 'CAMSAP3', 'score': 10.05}, {'connected_gene': 'GC19P007214', 'score': 0.31}, {'connected_gene': 'GC19P007151', 'score': 0.28}, {'connected_gene': 'INSR', 'score': 0.14}]
chr19 GH19I007424 7424400 7427654 0.69 [{'connected_gene': 'ARHGEF18', 'score': 18.15}, {'connected_gene': 'TEX45', 'score': 17.52}, {'connected_gene': 'PEX11G', 'score': 16.88}, {'connected_gene': 'CAMSAP3', 'score': 10.6}, {'connected_gene': 'GC19P007434', 'score': 0.44}, {'connected_gene': 'ENSG00000267852', 'score': 0.29}, {'connected_gene': 'ENSG00000268861', 'score': 0.26}]
chr19 GH19I007427 7427750 7429468 0.43 [{'connected_gene': 'ARHGEF18', 'score': 17.79}, {'connected_gene': 'TEX45', 'score': 12.38}, {'connected_gene': 'PEX11G', 'score': 12.37}, {'connected_gene': 'CAMSAP3', 'score': 10.6}, {'connected_gene': 'GC19P007434', 'score': 0.44}, {'connected_gene': 'ENSG00000267852', 'score': 0.29}, {'connected_gene': 'ENSG00000268861', 'score': 0.25}]
chr19 GH19I007842 7842495 7842983 0.85 [{'connected_gene': 'ELAVL1', 'score': 10.49}, {'connected_gene': 'LRRC8E', 'score': 9.82}, {'connected_gene': 'EVI5L', 'score': 6.66}, {'connected_gene': 'FBN3', 'score': 2.59}, {'connected_gene': 'PNPLA6', 'score': 2.25}, {'connected_gene': 'CAMSAP3', 'score': 1.54}, {'connected_gene': 'CERS4', 'score': 1.48}, {'connected_gene': 'CTXN1', 'score': 1.31}, {'connected_gene': 'ENSG00000268120', 'score': 0.31}]
chr19 GH19I007616 7616261 7616983 0.38 [{'connected_gene': 'MIR6792', 'score': 550.77}, {'connected_gene': 'XAB2', 'score': 18.16}, {'connected_gene': 'PET100', 'score': 16.59}, {'connected_gene': 'CAMSAP3', 'score': 12.95}, {'connected_gene': 'CLEC4G', 'score': 10.87}]
chr19 GH19I007617 7617943 7620874 0.94 [{'connected_gene': 'MIR6792', 'score': 550.77}, {'connected_gene': 'ELAVL1', 'score': 25.17}, {'connected_gene': 'HNRNPM', 'score': 23.71}, {'connected_gene': 'ZNF414', 'score': 11.2}, {'connected_gene': 'XAB2', 'score': 10.97}, {'connected_gene': 'PCP2', 'score': 10.07}, {'connected_gene': 'MAP2K7', 'score': 9.79}, {'connected_gene': 'RETN', 'score': 6.72}, {'connected_gene': 'CAMSAP3', 'score': 0.34}]
chr19 GH19I007541 7541255 7541404 0.52 [{'connected_gene': 'GC19M007532', 'score': 0.77}, {'connected_gene': 'PNPLA6', 'score': 0.44}, {'connected_gene': 'CAMSAP3', 'score': 0.23}]

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