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
ENST00000263088 [[4710390, 4710520], [4711066, 4711176], [4711278, 4711409], [4711568, 4711711], [4712394, 4712500], [4712592, 4712658], [4712787, 4712846], [4712985, 4713078], [4713171, 4713324], [4714096, 4714246], [4717712, 4717796], [4717927, 4718006], [4718770, 4718881], [4719058, 4719229], [4719914, 4720041], [4720231, 4720350], [4720440, 4720554], [4721296, 4721401], [4721591, 4721680], [4721788, 4721902], [4722068, 4722118], [4722378, 4722513], [4722723, 4722877], [4725087, 4725202], [4725934, 4726729]] [[4711067, 4711176], [4711278, 4711409], [4711568, 4711711], [4712394, 4712500], [4712592, 4712658], [4712787, 4712846], [4712985, 4713078], [4713171, 4713324], [4714096, 4714246], [4717712, 4717796], [4717927, 4718006], [4718770, 4718881], [4719058, 4719229], [4719914, 4720041], [4720231, 4720350], [4720440, 4720554], [4721296, 4721401], [4721591, 4721680], [4721788, 4721902], [4722068, 4722118], [4722378, 4722513], [4722723, 4722877], [4725087, 4725202], [4725934, 4726159]]
ENST00000572940 [[4710463, 4710520], [4711066, 4711176], [4711278, 4711409], [4711568, 4711711], [4712394, 4712500], [4712592, 4712658], [4712787, 4712846], [4712985, 4713078], [4713171, 4713324], [4714096, 4714246], [4717712, 4717796], [4717927, 4718006], [4718770, 4718881], [4719058, 4719229], [4719914, 4720041], [4720231, 4720350], [4720440, 4720554], [4721296, 4721401], [4721591, 4721680], [4721788, 4721902], [4722068, 4722118], [4722378, 4722513], [4722723, 4722844], [4725087, 4725202], [4725934, 4726723]] [[4711067, 4711176], [4711278, 4711409], [4711568, 4711711], [4712394, 4712500], [4712592, 4712658], [4712787, 4712846], [4712985, 4713078], [4713171, 4713324], [4714096, 4714246], [4717712, 4717796], [4717927, 4718006], [4718770, 4718881], [4719058, 4719229], [4719914, 4720041], [4720231, 4720350], [4720440, 4720554], [4721296, 4721401], [4721591, 4721680], [4721788, 4721902], [4722068, 4722118], [4722378, 4722513], [4722723, 4722844], [4725087, 4725202], [4725934, 4726159]]
ENST00000575246 [[4710477, 4710520], [4711066, 4711176], [4711278, 4711409], [4711568, 4711746], [4712394, 4712500], [4712592, 4712658], [4712787, 4712846], [4712985, 4713078], [4713171, 4713324], [4714096, 4714246], [4717712, 4717796], [4717927, 4718006], [4718770, 4718881], [4719058, 4719229], [4719914, 4720041], [4720231, 4720350], [4720440, 4720554], [4721296, 4721680]] [[4711067, 4711176], [4711278, 4711409], [4711568, 4711715]]
ENST00000575813 [[4714101, 4714246], [4717661, 4717796], [4717927, 4718006], [4718770, 4718849]] [[4714101, 4714246], [4717661, 4717662]]
ENST00000574796 [[4717444, 4717796], [4717927, 4718006], [4718770, 4718881], [4719058, 4719164]] None
ENST00000574268 [[4710486, 4710520], [4711066, 4711176], [4711278, 4711711], [4712394, 4712413]] None
ENST00000575316 [[4710856, 4710882], [4711066, 4711176], [4711278, 4711409], [4711568, 4711711], [4712394, 4712500], [4712592, 4712620]] [[4711067, 4711176], [4711278, 4711409], [4711568, 4711711], [4712394, 4712500], [4712592, 4712620]]
ENST00000576329 [[4719153, 4719229], [4719914, 4720200]] None
ENST00000573258 [[4719197, 4719229], [4719914, 4720041], [4720231, 4720432]] None
ENST00000572199 [[4720002, 4720350], [4720440, 4720670]] None
ENST00000576983 [[4720347, 4720350], [4720440, 4720554], [4721591, 4721680], [4721788, 4721902], [4722068, 4722118], [4722378, 4722513], [4722723, 4722810]] [[4720347, 4720350], [4720440, 4720554], [4721591, 4721680], [4721788, 4721902], [4722068, 4722118], [4722378, 4722513], [4722723, 4722810]]
ENST00000571273 [[4721238, 4721680], [4721788, 4721902], [4722068, 4722118], [4722378, 4722508]] None
ENST00000572127 [[4721492, 4721902], [4722068, 4722118], [4722378, 4722513], [4722723, 4722760]] None
ENST00000576864 [[4721887, 4721902], [4722068, 4722118], [4722378, 4722513], [4722723, 4722877], [4725087, 4725202], [4725934, 4726015], [4726553, 4726729]] [[4721887, 4721902], [4722068, 4722118], [4722378, 4722513], [4722723, 4722877], [4725087, 4725202], [4725934, 4726015], [4726553, 4726595]]
ENST00000575945 [[4724934, 4725202], [4725934, 4726090]] None
NM_001243108 [[4710395, 4710520], [4711066, 4711176], [4711278, 4711409], [4711568, 4711711], [4712394, 4712500], [4712592, 4712658], [4712787, 4712846], [4712985, 4713078], [4713171, 4713324], [4714096, 4714246], [4717712, 4717796], [4717927, 4718006], [4718770, 4718881], [4719058, 4719229], [4719914, 4720041], [4720231, 4720350], [4720440, 4720554], [4721296, 4721401], [4721591, 4721680], [4721788, 4721902], [4722068, 4722118], [4722378, 4722513], [4722723, 4722844], [4725087, 4725202], [4725934, 4726727]] [[4711067, 4711176], [4711278, 4711409], [4711568, 4711711], [4712394, 4712500], [4712592, 4712658], [4712787, 4712846], [4712985, 4713078], [4713171, 4713324], [4714096, 4714246], [4717712, 4717796], [4717927, 4718006], [4718770, 4718881], [4719058, 4719229], [4719914, 4720041], [4720231, 4720350], [4720440, 4720554], [4721296, 4721401], [4721591, 4721680], [4721788, 4721902], [4722068, 4722118], [4722378, 4722513], [4722723, 4722844], [4725087, 4725202], [4725934, 4726159]]
NM_002663 [[4710395, 4710520], [4711066, 4711176], [4711278, 4711409], [4711568, 4711711], [4712394, 4712500], [4712592, 4712658], [4712787, 4712846], [4712985, 4713078], [4713171, 4713324], [4714096, 4714246], [4717712, 4717796], [4717927, 4718006], [4718770, 4718881], [4719058, 4719229], [4719914, 4720041], [4720231, 4720350], [4720440, 4720554], [4721296, 4721401], [4721591, 4721680], [4721788, 4721902], [4722068, 4722118], [4722378, 4722513], [4722723, 4722877], [4725087, 4725202], [4725934, 4726727]] [[4711067, 4711176], [4711278, 4711409], [4711568, 4711711], [4712394, 4712500], [4712592, 4712658], [4712787, 4712846], [4712985, 4713078], [4713171, 4713324], [4714096, 4714246], [4717712, 4717796], [4717927, 4718006], [4718770, 4718881], [4719058, 4719229], [4719914, 4720041], [4720231, 4720350], [4720440, 4720554], [4721296, 4721401], [4721591, 4721680], [4721788, 4721902], [4722068, 4722118], [4722378, 4722513], [4722723, 4722877], [4725087, 4725202], [4725934, 4726159]]
Promoter
Chrom Start End Description
chr17 4710420 4710500 CAGE_peak_1_at_PLD2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I004795 4795409 4797075 2.04 [{'connected_gene': 'PSMB6', 'score': 550.77}, {'connected_gene': 'ZNF594', 'score': 18.14}, {'connected_gene': 'PLD2', 'score': 16.78}, {'connected_gene': 'LOC100130950', 'score': 16.45}, {'connected_gene': 'ENSG00000262165', 'score': 15.73}, {'connected_gene': 'LOC101927979', 'score': 14.95}, {'connected_gene': 'ZZEF1', 'score': 10.63}, {'connected_gene': 'PELP1', 'score': 10.01}, {'connected_gene': 'C17orf107', 'score': 4.73}, {'connected_gene': 'GC17M004737', 'score': 0.28}]
chr17 GH17I004846 4846866 4847015 0.69 [{'connected_gene': 'PLD2', 'score': 12.83}, {'connected_gene': 'ARRB2', 'score': 11.7}, {'connected_gene': 'GLTPD2', 'score': 11.69}, {'connected_gene': 'PELP1', 'score': 11.69}, {'connected_gene': 'LOC101559451', 'score': 11.69}, {'connected_gene': 'RPS12P29', 'score': 11.69}, {'connected_gene': 'VMO1', 'score': 11.68}, {'connected_gene': 'CXCL16', 'score': 10.6}, {'connected_gene': 'ZMYND15', 'score': 10.6}, {'connected_gene': 'MINK1', 'score': 0.39}, {'connected_gene': 'ATP6V0CP1', 'score': 0.39}]
chr17 GH17I004808 4808186 4808335 0.56 [{'connected_gene': 'PLD2', 'score': 550.77}, {'connected_gene': 'ENSG00000262165', 'score': 550.77}, {'connected_gene': 'GC17M004737', 'score': 0.34}]
chr17 GH17I004806 4806400 4807987 1.8 [{'connected_gene': 'PLD2', 'score': 565.33}, {'connected_gene': 'ENSG00000262165', 'score': 559.08}, {'connected_gene': 'GC17M004737', 'score': 0.31}]
chr17 GH17I004832 4832503 4836729 2.49 [{'connected_gene': 'MINK1', 'score': 554.38}, {'connected_gene': 'CHRNE', 'score': 34.94}, {'connected_gene': 'DERL2', 'score': 18.56}, {'connected_gene': 'ZZEF1', 'score': 15.9}, {'connected_gene': 'LOC102724009', 'score': 11.81}, {'connected_gene': 'LOC100130950', 'score': 11.53}, {'connected_gene': 'CXCL16', 'score': 10.68}, {'connected_gene': 'ZMYND15', 'score': 10.68}, {'connected_gene': 'NUP88', 'score': 10.54}, {'connected_gene': 'CAMTA2', 'score': 10.11}, {'connected_gene': 'ENSG00000263272', 'score': 10.04}, {'connected_gene': 'ENSG00000262165', 'score': 9.11}, {'connected_gene': 'C17orf107', 'score': 9.04}, {'connected_gene': 'ZNF232', 'score': 7.63}, {'connected_gene': 'ENO3', 'score': 6.88}, {'connected_gene': 'PLD2', 'score': 3.87}, {'connected_gene': 'ATP6V0CP1', 'score': 0.34}]
chr17 GH17I004937 4937795 4952239 2.34 [{'connected_gene': 'ENO3', 'score': 570.28}, {'connected_gene': 'RNF167', 'score': 556.31}, {'connected_gene': 'SLC25A11', 'score': 550.77}, {'connected_gene': 'PFN1', 'score': 550.77}, {'connected_gene': 'SPAG7', 'score': 30.55}, {'connected_gene': 'CHRNE', 'score': 26.31}, {'connected_gene': 'CAMTA2', 'score': 25.43}, {'connected_gene': 'ZNF594', 'score': 16.2}, {'connected_gene': 'LOC100130950', 'score': 15.94}, {'connected_gene': 'ZZEF1', 'score': 15.9}, {'connected_gene': 'INCA1', 'score': 12.0}, {'connected_gene': 'LOC102724009', 'score': 11.91}, {'connected_gene': 'RPAIN', 'score': 11.62}, {'connected_gene': 'ZNF232', 'score': 11.04}, {'connected_gene': 'PELP1', 'score': 11.03}, {'connected_gene': 'ANKFY1', 'score': 10.85}, {'connected_gene': 'NUP88', 'score': 10.55}, {'connected_gene': 'USP6', 'score': 10.05}, {'connected_gene': 'DERL2', 'score': 9.89}, {'connected_gene': 'PLD2', 'score': 4.64}, {'connected_gene': 'GC17M004950', 'score': 0.77}, {'connected_gene': 'GC17M004948', 'score': 0.77}]
chr17 GH17I004852 4852000 4855270 1.31 [{'connected_gene': 'CHRNE', 'score': 39.16}, {'connected_gene': 'MINK1', 'score': 14.26}, {'connected_gene': 'PLD2', 'score': 12.92}, {'connected_gene': 'ZMYND15', 'score': 11.48}, {'connected_gene': 'CXCL16', 'score': 11.48}, {'connected_gene': 'SLC25A11', 'score': 10.77}, {'connected_gene': 'RNF167', 'score': 10.77}, {'connected_gene': 'SPAG7', 'score': 10.66}, {'connected_gene': 'ENO3', 'score': 10.27}, {'connected_gene': 'PFN1', 'score': 10.27}, {'connected_gene': 'CAMTA2', 'score': 10.06}, {'connected_gene': 'ZFP3', 'score': 9.92}, {'connected_gene': 'ENSG00000262165', 'score': 8.63}, {'connected_gene': 'C17orf107', 'score': 7.04}, {'connected_gene': 'GP1BA', 'score': 6.89}, {'connected_gene': 'ATP6V0CP1', 'score': 0.77}]
chr17 GH17I004842 4842801 4846199 1.09 [{'connected_gene': 'CHRNE', 'score': 36.89}, {'connected_gene': 'ARRB2', 'score': 19.83}, {'connected_gene': 'ZMYND15', 'score': 16.86}, {'connected_gene': 'CXCL16', 'score': 13.78}, {'connected_gene': 'C17orf107', 'score': 13.68}, {'connected_gene': 'PLD2', 'score': 12.83}, {'connected_gene': 'ENO3', 'score': 12.74}, {'connected_gene': 'PSMB6', 'score': 11.92}, {'connected_gene': 'RPS12P29', 'score': 11.7}, {'connected_gene': 'VMO1', 'score': 11.69}, {'connected_gene': 'GLTPD2', 'score': 11.69}, {'connected_gene': 'PELP1', 'score': 11.69}, {'connected_gene': 'LOC101559451', 'score': 11.69}, {'connected_gene': 'SCIMP', 'score': 2.9}, {'connected_gene': 'MINK1', 'score': 2.67}, {'connected_gene': 'ATP6V0CP1', 'score': 0.39}]
chr17 GH17I004837 4837162 4841055 1.05 [{'connected_gene': 'CHRNE', 'score': 38.43}, {'connected_gene': 'ENO3', 'score': 21.15}, {'connected_gene': 'SPAG7', 'score': 16.88}, {'connected_gene': 'PLD2', 'score': 12.23}, {'connected_gene': 'VMO1', 'score': 11.4}, {'connected_gene': 'GLTPD2', 'score': 11.4}, {'connected_gene': 'CXCL16', 'score': 11.03}, {'connected_gene': 'ZMYND15', 'score': 11.03}, {'connected_gene': 'ENSG00000234203', 'score': 10.7}, {'connected_gene': 'PFN1', 'score': 10.62}, {'connected_gene': 'SLC25A11', 'score': 10.49}, {'connected_gene': 'RNF167', 'score': 10.49}, {'connected_gene': 'CAMTA2', 'score': 10.12}, {'connected_gene': 'ENSG00000262165', 'score': 8.85}, {'connected_gene': 'ZNF594', 'score': 4.96}, {'connected_gene': 'MINK1', 'score': 0.44}, {'connected_gene': 'ATP6V0CP1', 'score': 0.37}]
chr17 GH17I004847 4847426 4851837 1.33 [{'connected_gene': 'CHRNE', 'score': 39.43}, {'connected_gene': 'ENO3', 'score': 22.59}, {'connected_gene': 'PFN1', 'score': 15.0}, {'connected_gene': 'ZMYND15', 'score': 14.98}, {'connected_gene': 'ARRB2', 'score': 14.73}, {'connected_gene': 'C17orf107', 'score': 14.25}, {'connected_gene': 'PLD2', 'score': 12.81}, {'connected_gene': 'CXCL16', 'score': 12.37}, {'connected_gene': 'PELP1', 'score': 11.69}, {'connected_gene': 'LOC101559451', 'score': 11.69}, {'connected_gene': 'RPS12P29', 'score': 11.69}, {'connected_gene': 'VMO1', 'score': 11.68}, {'connected_gene': 'GLTPD2', 'score': 11.68}, {'connected_gene': 'RNU6-955P', 'score': 10.19}, {'connected_gene': 'ENSG00000262165', 'score': 6.83}, {'connected_gene': 'MINK1', 'score': 3.19}, {'connected_gene': 'RNF167', 'score': 2.66}, {'connected_gene': 'UBE2G1', 'score': 2.22}, {'connected_gene': 'ZNF232', 'score': 1.83}, {'connected_gene': 'RABEP1', 'score': 1.28}, {'connected_gene': 'CAMTA2', 'score': 1.27}, {'connected_gene': 'ATP6V0CP1', 'score': 0.44}]
chr17 GH17I004856 4856142 4861409 1.22 [{'connected_gene': 'ATP6V0CP1', 'score': 550.77}, {'connected_gene': 'CHRNE', 'score': 52.13}, {'connected_gene': 'C17orf107', 'score': 21.77}, {'connected_gene': 'ZFP3', 'score': 15.77}, {'connected_gene': 'MINK1', 'score': 13.65}, {'connected_gene': 'PLD2', 'score': 12.91}, {'connected_gene': 'ARRB2', 'score': 12.07}, {'connected_gene': 'PELP1', 'score': 12.06}, {'connected_gene': 'RPS12P29', 'score': 12.06}, {'connected_gene': 'LOC101559451', 'score': 12.06}, {'connected_gene': 'ZMYND15', 'score': 11.47}, {'connected_gene': 'CXCL16', 'score': 11.47}, {'connected_gene': 'ENO3', 'score': 11.47}, {'connected_gene': 'SLC25A11', 'score': 10.78}, {'connected_gene': 'RNF167', 'score': 10.78}, {'connected_gene': 'CAMTA2', 'score': 10.07}, {'connected_gene': 'GC17P004875', 'score': 0.37}, {'connected_gene': 'GC17M004858', 'score': 0.34}]
chr17 GH17I004720 4720567 4722495 1.25 [{'connected_gene': 'GC17M004721', 'score': 550.77}, {'connected_gene': 'ARRB2', 'score': 15.28}, {'connected_gene': 'PLD2', 'score': 12.01}, {'connected_gene': 'MINK1', 'score': 11.98}, {'connected_gene': 'ALOX15', 'score': 10.83}, {'connected_gene': 'GGT6', 'score': 9.98}, {'connected_gene': 'ZFP3', 'score': 5.16}, {'connected_gene': 'GC17M004714', 'score': 0.44}]

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