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
ENST00000395748 [[75310850, 75311123], [75312250, 75312499], [75314763, 75314965], [75316096, 75316249], [75318260, 75318372], [75320475, 75320726]] [[75311062, 75311123], [75312250, 75312499], [75314763, 75314965], [75316096, 75316249], [75318260, 75318354]]
ENST00000264487 [[75310852, 75311123], [75312250, 75312499], [75314763, 75314965], [75316096, 75316249], [75318260, 75318354]] [[75311062, 75311123], [75312250, 75312499], [75314763, 75314965], [75316096, 75316249], [75318260, 75318354]]
ENST00000502307 [[75311018, 75311123], [75312250, 75312499], [75314763, 75314965], [75316096, 75316249], [75320475, 75320722]] [[75311062, 75311123], [75312250, 75312499], [75314763, 75314965], [75316096, 75316249], [75320475, 75320635]]
ENST00000511560 [[75314355, 75314965], [75316096, 75316249]] None
NM_001657 [[75310814, 75311123], [75312250, 75312499], [75314763, 75314965], [75316096, 75316249], [75318260, 75318372], [75320475, 75320726]] [[75311062, 75311123], [75312250, 75312499], [75314763, 75314965], [75316096, 75316249], [75318260, 75318354]]
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I074107 74107742 74118086 1.58 [{'connected_gene': 'MTHFD2L', 'score': 554.4}, {'connected_gene': 'CXCL2', 'score': 45.82}, {'connected_gene': 'EREG', 'score': 38.58}, {'connected_gene': 'CXCL8', 'score': 35.67}, {'connected_gene': 'CXCL3', 'score': 30.88}, {'connected_gene': 'CXCL1', 'score': 1.84}, {'connected_gene': 'AREG', 'score': 1.28}, {'connected_gene': 'LOC105377277', 'score': 0.31}]
chr4 GH04I074648 74648586 74651177 0.46 [{'connected_gene': 'AREG', 'score': 4.33}, {'connected_gene': 'ENSG00000249942', 'score': 0.21}, {'connected_gene': 'BTC', 'score': 0.11}]
chr4 GH04I074407 74407049 74413526 1.01 [{'connected_gene': 'AREG', 'score': 7.04}, {'connected_gene': 'CXCL2', 'score': 5.08}, {'connected_gene': 'ENSG00000250532', 'score': 0.29}, {'connected_gene': 'EREG', 'score': 0.25}]
chr4 GH04I074361 74361715 74362493 0.51 [{'connected_gene': 'AREG', 'score': 5.47}, {'connected_gene': 'EREG', 'score': 0.77}, {'connected_gene': 'LOC105377276', 'score': 0.29}]
chr4 GH04I074380 74380546 74381401 0.49 [{'connected_gene': 'AREG', 'score': 5.36}, {'connected_gene': 'EREG', 'score': 0.37}, {'connected_gene': 'ENSG00000250532', 'score': 0.22}]
chr4 GH04I074383 74383574 74386646 0.31 [{'connected_gene': 'AREG', 'score': 8.21}, {'connected_gene': 'EREG', 'score': 0.37}, {'connected_gene': 'ENSG00000250532', 'score': 0.22}]
chr4 GH04I074389 74389190 74390029 0.38 [{'connected_gene': 'AREG', 'score': 8.12}, {'connected_gene': 'EREG', 'score': 0.34}, {'connected_gene': 'ENSG00000250532', 'score': 0.23}]
chrX GH0XI068163 68163033 68164228 0.38 [{'connected_gene': 'AR', 'score': 9.52}, {'connected_gene': 'AKIRIN1P2', 'score': 0.29}, {'connected_gene': 'GC0XP068269', 'score': 0.14}, {'connected_gene': 'OPHN1', 'score': 0.06}]
chrX GH0XI067543 67543379 67548200 1.6 [{'connected_gene': 'AR', 'score': 556.42}, {'connected_gene': 'LOC105373241', 'score': 0.08}]
chrX GH0XI067619 67619359 67619508 0.59 [{'connected_gene': 'AR', 'score': 0.18}, {'connected_gene': 'LOC105373241', 'score': 0.11}]
chrX GH0XI067779 67779247 67781971 0.9 [{'connected_gene': 'AR', 'score': 5.53}, {'connected_gene': 'GC0XM067791', 'score': 0.39}, {'connected_gene': 'LOC105373241', 'score': 0.37}]
chrX GH0XI067607 67607059 67608322 0.2 [{'connected_gene': 'AR', 'score': 0.21}, {'connected_gene': 'LOC105373241', 'score': 0.1}]
chrX GH0XI067604 67604280 67606273 0.72 [{'connected_gene': 'AR', 'score': 4.74}, {'connected_gene': 'LOC105373241', 'score': 0.1}]
chrX GH0XI067563 67563030 67564392 0.38 [{'connected_gene': 'AR', 'score': 0.37}, {'connected_gene': 'LOC105373241', 'score': 0.08}]
chrX GH0XI067612 67612160 67615144 0.62 [{'connected_gene': 'AR', 'score': 0.2}, {'connected_gene': 'LOC105373241', 'score': 0.11}]
chrX GH0XI066728 66728359 66729415 1.05 [{'connected_gene': 'AR', 'score': 5.1}, {'connected_gene': 'LOC105373240', 'score': 0.31}, {'connected_gene': 'RNU6-394P', 'score': 0.23}]
chrX GH0XI066900 66900795 66902065 0.43 [{'connected_gene': 'AR', 'score': 4.01}, {'connected_gene': 'PIR35805', 'score': 0.14}, {'connected_gene': 'LOC105373240', 'score': 0.11}]
chrX GH0XI067287 67287544 67289008 0.2 [{'connected_gene': 'AR', 'score': 5.31}, {'connected_gene': 'LOC100129144', 'score': 0.17}, {'connected_gene': 'PIR35805', 'score': 0.06}]
chr4 GH04I074449 74449447 74450032 0.2 [{'connected_gene': 'AREG', 'score': 0.77}, {'connected_gene': 'ENSG00000249942', 'score': 0.12}]
chr4 GH04I074448 74448754 74449136 0.2 [{'connected_gene': 'AREG', 'score': 0.77}, {'connected_gene': 'ENSG00000249942', 'score': 0.11}]
chr4 GH04I074490 74490292 74491511 0.43 [{'connected_gene': 'AREG', 'score': 0.25}, {'connected_gene': 'ENSG00000249942', 'score': 0.15}]
chr4 GH04I074447 74447601 74447800 0.4 [{'connected_gene': 'AREG', 'score': 0.77}, {'connected_gene': 'ENSG00000249942', 'score': 0.11}]
chr4 GH04I074454 74454244 74457766 0.38 [{'connected_gene': 'AREG', 'score': 0.39}, {'connected_gene': 'ENSG00000249942', 'score': 0.12}]
chr4 GH04I074450 74450229 74450715 0.2 [{'connected_gene': 'AREG', 'score': 5.2}, {'connected_gene': 'ENSG00000249942', 'score': 0.12}]
chr4 GH04I074479 74479144 74479293 0.69 [{'connected_gene': 'AREG', 'score': 0.29}, {'connected_gene': 'ENSG00000249942', 'score': 0.14}]
chr4 GH04I074500 74500106 74504757 0.94 [{'connected_gene': 'AREG', 'score': 0.22}, {'connected_gene': 'ENSG00000249942', 'score': 0.17}]
chr4 GH04I074472 74472724 74474067 0.74 [{'connected_gene': 'AREG', 'score': 0.31}, {'connected_gene': 'ENSG00000249942', 'score': 0.13}]
chr4 GH04I074453 74453012 74453964 0.2 [{'connected_gene': 'AREG', 'score': 0.44}, {'connected_gene': 'ENSG00000249942', 'score': 0.12}]
chr4 GH04I074505 74505378 74506120 0.83 [{'connected_gene': 'AREG', 'score': 0.21}, {'connected_gene': 'ENSG00000249942', 'score': 0.18}]
chr4 GH04I074451 74451200 74451601 0.4 [{'connected_gene': 'AREG', 'score': 0.44}, {'connected_gene': 'ENSG00000249942', 'score': 0.12}]
chr4 GH04I074444 74444600 74446000 1.2 [{'connected_gene': 'AREG', 'score': 550.77}, {'connected_gene': 'ENSG00000249942', 'score': 0.11}]
chr4 GH04I074097 74097182 74101196 2.45 [{'connected_gene': 'CXCL2', 'score': 555.01}, {'connected_gene': 'ANKRD17', 'score': 25.08}, {'connected_gene': 'ENSG00000250220', 'score': 19.04}, {'connected_gene': 'CXCL3', 'score': 16.35}, {'connected_gene': 'AREG', 'score': 12.56}, {'connected_gene': 'MTHFD2L', 'score': 10.45}, {'connected_gene': 'LOC643014', 'score': 0.39}]
chr4 GH04I074667 74667146 74669750 0.63 [{'connected_gene': 'EPGN', 'score': 10.13}, {'connected_gene': 'MTHFD2L', 'score': 8.97}, {'connected_gene': 'AREG', 'score': 5.07}, {'connected_gene': 'ENSG00000249942', 'score': 0.18}, {'connected_gene': 'BTC', 'score': 0.13}]
chr4 GH04I074370 74370552 74371694 0.82 [{'connected_gene': 'EPGN', 'score': 10.04}, {'connected_gene': 'AREG', 'score': 5.12}, {'connected_gene': 'EREG', 'score': 0.44}, {'connected_gene': 'ENSG00000250532', 'score': 0.2}]
chr4 GH04I074373 74373833 74378144 1.24 [{'connected_gene': 'EPGN', 'score': 9.95}, {'connected_gene': 'AREG', 'score': 5.34}, {'connected_gene': 'EREG', 'score': 0.39}, {'connected_gene': 'ENSG00000250532', 'score': 0.21}]
chr4 GH04I074631 74631210 74634100 1.51 [{'connected_gene': 'EREG', 'score': 2.53}, {'connected_gene': 'AREG', 'score': 2.24}, {'connected_gene': 'ENSG00000249942', 'score': 0.26}, {'connected_gene': 'BTC', 'score': 0.1}]
chr4 GH04I074358 74358048 74359911 0.2 [{'connected_gene': 'EREG', 'score': 9.08}, {'connected_gene': 'AREG', 'score': 5.44}, {'connected_gene': 'LOC105377276', 'score': 0.31}]
chr4 GH04I074391 74391769 74392624 0.8 [{'connected_gene': 'EREG', 'score': 11.07}, {'connected_gene': 'CXCL2', 'score': 10.73}, {'connected_gene': 'CXCL3', 'score': 8.81}, {'connected_gene': 'AREG', 'score': 8.13}, {'connected_gene': 'MTHFD2L', 'score': 2.15}, {'connected_gene': 'ENSG00000250532', 'score': 0.25}]
chr4 GH04I074363 74363731 74369514 2.23 [{'connected_gene': 'EREG', 'score': 556.06}, {'connected_gene': 'EPGN', 'score': 10.05}, {'connected_gene': 'AREG', 'score': 5.53}, {'connected_gene': 'ENSG00000250532', 'score': 0.19}]
chr4 GH04I074531 74531484 74532792 1.27 [{'connected_gene': 'THAP6', 'score': 16.03}, {'connected_gene': 'ENSG00000249942', 'score': 0.22}, {'connected_gene': 'AREG', 'score': 0.17}]
chrX GH0XI067651 67651637 67655303 0.43 [{'connected_gene': 'LOC105373241', 'score': 0.14}, {'connected_gene': 'AR', 'score': 0.14}]
chrX GH0XI067723 67723079 67723228 0.38 [{'connected_gene': 'LOC105373241', 'score': 0.28}, {'connected_gene': 'AR', 'score': 0.1}]
chrX GH0XI067695 67695319 67696159 0.56 [{'connected_gene': 'LOC105373241', 'score': 0.2}, {'connected_gene': 'AR', 'score': 0.1}]
chr4 GH04I075180 75180801 75181786 0.93 [{'connected_gene': 'LOC100506253', 'score': 550.77}, {'connected_gene': 'LINC02562', 'score': 5.44}, {'connected_gene': 'AREG', 'score': 5.22}, {'connected_gene': 'ENSG00000250560', 'score': 0.39}]
chr4 GH04I074533 74533375 74536488 0.77 [{'connected_gene': 'ENSG00000249942', 'score': 0.23}, {'connected_gene': 'AREG', 'score': 0.17}]
chr4 GH04I074526 74526449 74529181 0.43 [{'connected_gene': 'ENSG00000249942', 'score': 0.21}, {'connected_gene': 'AREG', 'score': 0.18}]
chr4 GH04I074441 74441629 74443782 0.2 [{'connected_gene': 'ENSG00000250532', 'score': 0.77}, {'connected_gene': 'AREG', 'score': 0.77}]
chr4 GH04I074538 74538412 74540769 0.88 [{'connected_gene': 'ENSG00000249942', 'score': 0.25}, {'connected_gene': 'AREG', 'score': 0.16}]
chr4 GH04I074541 74541288 74547892 1.23 [{'connected_gene': 'ENSG00000249942', 'score': 0.26}, {'connected_gene': 'AREG', 'score': 0.15}]
chr4 GH04I074521 74521731 74526390 0.31 [{'connected_gene': 'ENSG00000249942', 'score': 0.2}, {'connected_gene': 'AREG', 'score': 0.18}]
chr4 GH04I074555 74555344 74555493 0.46 [{'connected_gene': 'ENSG00000249942', 'score': 0.29}, {'connected_gene': 'AREG', 'score': 0.14}]

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