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
ENST00000555003 [[34650698, 34652054], [34655214, 34655314], [34655601, 34655662], [34656735, 34656905], [34657031, 34657146], [34657299, 34657332], [34657417, 34657584], [34658516, 34658680], [34659755, 34659897], [34660270, 34660390], [34660500, 34660597], [34660850, 34660933], [34661478, 34661878]] [[34655214, 34655314], [34655601, 34655662], [34656735, 34656905], [34657031, 34657146], [34657299, 34657332], [34657417, 34657584], [34658516, 34658680], [34659755, 34659897], [34660270, 34660390], [34660500, 34660597], [34660850, 34660933], [34661478, 34661495]]
ENST00000555247 [[34652158, 34652230], [34655214, 34655314], [34656735, 34656905], [34657031, 34657146], [34657299, 34657332], [34657417, 34657584], [34658516, 34658680], [34659755, 34659897], [34660270, 34660390], [34660500, 34660597], [34660850, 34660933], [34661478, 34661884]] [[34655214, 34655314], [34656735, 34656800]]
ENST00000441545 [[34652188, 34652230], [34655214, 34655314], [34655601, 34655662], [34656735, 34656905], [34657031, 34657146], [34657299, 34657332], [34657417, 34657584], [34658516, 34658680], [34659755, 34659897], [34660270, 34660390], [34660500, 34660597], [34660850, 34660933], [34661478, 34661884]] [[34655214, 34655314], [34655601, 34655662], [34656735, 34656905], [34657031, 34657146], [34657299, 34657332], [34657417, 34657584], [34658516, 34658680], [34659755, 34659897], [34660270, 34660390], [34660500, 34660597], [34660850, 34660933], [34661478, 34661495]]
ENST00000553620 [[34652196, 34652230], [34655214, 34655314], [34657031, 34657146], [34657299, 34657332], [34657417, 34657584], [34658516, 34658558]] [[34655214, 34655314], [34657031, 34657146], [34657299, 34657332], [34657417, 34657584], [34658516, 34658558]]
ENST00000556792 [[34653860, 34654016], [34655214, 34655314], [34655601, 34655662], [34656735, 34656905], [34657031, 34657119]] [[34655214, 34655314], [34655601, 34655662], [34656735, 34656905], [34657031, 34657119]]
ENST00000378817 [[34653931, 34653996], [34655214, 34655314], [34655601, 34655662], [34656735, 34656905], [34657031, 34657146], [34657299, 34657332], [34657417, 34657584], [34658516, 34658680], [34659755, 34659897], [34660270, 34660390], [34660500, 34660813]] [[34655214, 34655314], [34655601, 34655662], [34656735, 34656905], [34657031, 34657146], [34657299, 34657332], [34657417, 34657584], [34658516, 34658680], [34659755, 34659897], [34660270, 34660390], [34660500, 34660601]]
ENST00000318041 [[34653931, 34653996], [34655214, 34655314], [34655601, 34655662], [34656735, 34656905], [34657031, 34657146], [34657299, 34657332], [34657417, 34657584], [34658516, 34658680], [34659755, 34659897], [34660270, 34660390], [34660500, 34660597], [34660850, 34660933], [34661478, 34661889]] [[34655214, 34655314], [34655601, 34655662], [34656735, 34656905], [34657031, 34657146], [34657299, 34657332], [34657417, 34657584], [34658516, 34658680], [34659755, 34659897], [34660270, 34660390], [34660500, 34660597], [34660850, 34660933], [34661478, 34661495]]
ENST00000478308 [[34653938, 34653996], [34655214, 34655662], [34656735, 34656817]] None
ENST00000557298 [[34653942, 34653996], [34655214, 34655314], [34655601, 34655662], [34657031, 34657146], [34657299, 34657332], [34657417, 34657584], [34658516, 34658680], [34659755, 34659897], [34660270, 34660390], [34660500, 34660597], [34660850, 34660933], [34661478, 34661847]] [[34655214, 34655314], [34655601, 34655662], [34657031, 34657077]]
ENST00000556531 [[34655031, 34655067], [34655214, 34655314], [34655601, 34655662], [34656735, 34656905], [34657031, 34657146], [34657299, 34657332], [34657417, 34657439]] [[34655214, 34655314], [34655601, 34655662], [34656735, 34656905], [34657031, 34657146], [34657299, 34657332], [34657417, 34657439]]
ENST00000555981 [[34655080, 34655314], [34655601, 34655662], [34656735, 34656905], [34657031, 34657146], [34657299, 34657332], [34657417, 34657584], [34658516, 34658680]] [[34655214, 34655314], [34655601, 34655662], [34656735, 34656905], [34657031, 34657146], [34657299, 34657332], [34657417, 34657584], [34658516, 34658680]]
ENST00000555579 [[34655127, 34655314], [34655601, 34655934]] None
ENST00000478802 [[34655214, 34655314], [34655601, 34655662], [34656735, 34656905], [34657031, 34657115], [34657310, 34657332], [34657417, 34657514]] None
ENST00000602473 [[34655214, 34655314], [34655601, 34655662], [34656735, 34656905], [34657031, 34657146], [34657299, 34657332], [34657417, 34657584], [34658516, 34658680], [34659755, 34659897], [34660270, 34660390], [34660500, 34660816]] [[34655214, 34655314], [34655601, 34655662], [34656735, 34656905], [34657031, 34657146], [34657299, 34657332], [34657417, 34657584], [34658516, 34658680], [34659755, 34659897], [34660270, 34660390], [34660500, 34660601]]
ENST00000553969 [[34655408, 34655662], [34656735, 34656947]] None
ENST00000466082 [[34659882, 34659897], [34660270, 34660390], [34660500, 34660597], [34660800, 34660933], [34661478, 34661652]] [[34659882, 34659897], [34660270, 34660390], [34660500, 34660597], [34660800, 34660801]]
NM_001142784 [[34652181, 34652230], [34655214, 34655314], [34655601, 34655662], [34656735, 34656905], [34657031, 34657146], [34657299, 34657332], [34657417, 34657584], [34658516, 34658680], [34659755, 34659897], [34660270, 34660390], [34660500, 34660597], [34660850, 34660933], [34661478, 34661899]] [[34655214, 34655314], [34655601, 34655662], [34656735, 34656905], [34657031, 34657146], [34657299, 34657332], [34657417, 34657584], [34658516, 34658680], [34659755, 34659897], [34660270, 34660390], [34660500, 34660597], [34660850, 34660933], [34661478, 34661495]]
NR_052010 [[34653893, 34653996], [34655214, 34655314], [34655601, 34655662], [34656735, 34656905], [34657031, 34657146], [34657299, 34657332], [34657417, 34657584], [34658516, 34658680], [34659755, 34659897], [34660270, 34660390], [34660500, 34660597], [34660850, 34660933], [34661478, 34661899]] None
Promoter
Chrom Start End Description
chr9 34652164 34652206 CAGE_peak_1_at_IL11RA_5end
chr9 34653904 34653930 CAGE_peak_2_at_IL11RA_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I035644 35644343 35653366 2.43 [{'connected_gene': 'CD72', 'score': 566.51}, {'connected_gene': 'SIT1', 'score': 550.77}, {'connected_gene': 'ARHGEF39', 'score': 17.23}, {'connected_gene': 'TMEM8B', 'score': 6.5}, {'connected_gene': 'CCDC107', 'score': 5.61}, {'connected_gene': 'CA9', 'score': 5.52}, {'connected_gene': 'IL11RA', 'score': 4.4}, {'connected_gene': 'LOC101926948', 'score': 0.77}]
chr9 GH09I034709 34709695 34710503 0.7 [{'connected_gene': 'CCL21', 'score': 550.77}, {'connected_gene': 'FAM205BP', 'score': 11.87}, {'connected_gene': 'IL11RA', 'score': 10.95}, {'connected_gene': 'GALT', 'score': 10.92}, {'connected_gene': 'RPP25L', 'score': 5.46}, {'connected_gene': 'FAM205A', 'score': 5.06}, {'connected_gene': 'CCL19', 'score': 0.37}]
chr9 GH09I034650 34650775 34655613 2.21 [{'connected_gene': 'IL11RA', 'score': 550.77}, {'connected_gene': 'GALT', 'score': 18.52}, {'connected_gene': 'ENSG00000230074', 'score': 17.04}, {'connected_gene': 'ENSG00000258728', 'score': 0.44}, {'connected_gene': 'CCL27', 'score': 0.39}]
chr9 GH09I034175 34175878 34176523 0.43 [{'connected_gene': 'NUDT2', 'score': 26.69}, {'connected_gene': 'NFX1', 'score': 11.13}, {'connected_gene': 'IL11RA', 'score': 10.9}, {'connected_gene': 'ENSG00000230074', 'score': 10.75}, {'connected_gene': 'UBAP1', 'score': 0.77}, {'connected_gene': 'GC09P034270', 'score': 0.44}]
chr9 GH09I034645 34645955 34648591 2.06 [{'connected_gene': 'GALT', 'score': 568.66}, {'connected_gene': 'ENSG00000258728', 'score': 550.77}, {'connected_gene': 'PIGO', 'score': 11.18}, {'connected_gene': 'DCTN3', 'score': 11.12}, {'connected_gene': 'ENSG00000228352', 'score': 10.85}, {'connected_gene': 'SIGMAR1', 'score': 5.74}, {'connected_gene': 'IL11RA', 'score': 0.77}]
chr9 GH09I034987 34987964 34998595 2.46 [{'connected_gene': 'DNAJB5', 'score': 557.09}, {'connected_gene': 'UBAP2', 'score': 25.58}, {'connected_gene': 'VCP', 'score': 20.65}, {'connected_gene': 'FANCG', 'score': 16.22}, {'connected_gene': 'PIGO', 'score': 12.05}, {'connected_gene': 'FAM205A', 'score': 11.95}, {'connected_gene': 'C9orf131', 'score': 10.93}, {'connected_gene': 'ATP8B5P', 'score': 10.32}, {'connected_gene': 'RPP25L', 'score': 6.57}, {'connected_gene': 'FAM205C', 'score': 5.24}, {'connected_gene': 'IL11RA', 'score': 4.45}, {'connected_gene': 'GC09P034997', 'score': 0.77}, {'connected_gene': 'DNAJB5-AS1', 'score': 0.77}]
chr9 GH09I034659 34659684 34659833 0.43 [{'connected_gene': 'CCL27', 'score': 0.77}, {'connected_gene': 'IL11RA', 'score': 0.44}]
chr9 GH09I034675 34675164 34675333 0.76 [{'connected_gene': 'PIR49106', 'score': 550.77}, {'connected_gene': 'ENSG00000230074', 'score': 20.95}, {'connected_gene': 'IL11RA', 'score': 12.11}, {'connected_gene': 'GALT', 'score': 12.05}, {'connected_gene': 'CCL21', 'score': 11.46}, {'connected_gene': 'ARID3C', 'score': 11.24}, {'connected_gene': 'LOC730098', 'score': 0.44}]
chr9 GH09I034681 34681860 34682177 0.49 [{'connected_gene': 'ENSG00000230074', 'score': 20.78}, {'connected_gene': 'IL11RA', 'score': 2.09}, {'connected_gene': 'ARID3C', 'score': 2.04}, {'connected_gene': 'CCL19', 'score': 0.44}, {'connected_gene': 'PIR49106', 'score': 0.44}]
chr9 GH09I034575 34575665 34580790 0.77 [{'connected_gene': 'GC09P034579', 'score': 550.77}, {'connected_gene': 'GC09P034580', 'score': 550.77}, {'connected_gene': 'GALT', 'score': 26.13}, {'connected_gene': 'RPP25L', 'score': 22.39}, {'connected_gene': 'ENSG00000230074', 'score': 15.55}, {'connected_gene': 'ENHO', 'score': 15.51}, {'connected_gene': 'FAM219A', 'score': 14.09}, {'connected_gene': 'ENSG00000232983', 'score': 13.54}, {'connected_gene': 'ARID3C', 'score': 12.12}, {'connected_gene': 'CNTFR', 'score': 11.37}, {'connected_gene': 'ENSG00000230729', 'score': 10.98}, {'connected_gene': 'SIGMAR1', 'score': 10.74}, {'connected_gene': 'DNAI1', 'score': 10.51}, {'connected_gene': 'DCTN3', 'score': 10.44}, {'connected_gene': 'IL11RA', 'score': 10.15}, {'connected_gene': 'CCL19', 'score': 9.62}, {'connected_gene': 'DNAJB5', 'score': 4.58}, {'connected_gene': 'PHF24', 'score': 3.22}, {'connected_gene': 'LOC105376023', 'score': 0.44}, {'connected_gene': 'CNTFR-AS1', 'score': 0.39}]

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