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
ENST00000244869 [[75230859, 75231092], [75245164, 75245251], [75246730, 75246854], [75248361, 75248511], [75250443, 75254468]] [[75231025, 75231092], [75245164, 75245251], [75246730, 75246854], [75248361, 75248511], [75250443, 75250525]]
ENST00000507603 [[75230889, 75231092], [75245164, 75245251], [75246730, 75247730]] None
ENST00000503689 [[75248139, 75248511], [75250443, 75250669]] None
NM_001432 [[75230859, 75231092], [75245164, 75245251], [75246730, 75246854], [75248361, 75248511], [75250443, 75254477]] [[75231025, 75231092], [75245164, 75245251], [75246730, 75246854], [75248361, 75248511], [75250443, 75250525]]
Promoter
Chrom Start End Description
chr4 75230459 75230466 CAGE_peak_3_at_EREG_5end
chr4 75230682 75230707 CAGE_peak_2_at_EREG_5end
chr4 75230853 75230871 CAGE_peak_1_at_EREG_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I073872 73872001 73873520 1.01 [{'connected_gene': 'PF4V1', 'score': 8.08}, {'connected_gene': 'CXCL8', 'score': 7.88}, {'connected_gene': 'PF4', 'score': 7.02}, {'connected_gene': 'PPBP', 'score': 3.46}, {'connected_gene': 'CXCL3', 'score': 2.71}, {'connected_gene': 'EREG', 'score': 2.45}, {'connected_gene': 'CXCL2', 'score': 2.28}, {'connected_gene': 'CXCL1', 'score': 0.77}, {'connected_gene': 'HNRNPA1P55', 'score': 0.2}]
chr4 GH04I073874 73874484 73874756 0.41 [{'connected_gene': 'PF4', 'score': 8.76}, {'connected_gene': 'CXCL8', 'score': 6.74}, {'connected_gene': 'PPBP', 'score': 5.03}, {'connected_gene': 'PF4V1', 'score': 3.84}, {'connected_gene': 'CXCL3', 'score': 2.92}, {'connected_gene': 'CXCL2', 'score': 2.56}, {'connected_gene': 'EREG', 'score': 2.45}, {'connected_gene': 'CXCL1', 'score': 0.44}, {'connected_gene': 'HNRNPA1P55', 'score': 0.2}]
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 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}]
chr4 GH04I074230 74230157 74232558 1.39 [{'connected_gene': 'CXCL8', 'score': 31.3}, {'connected_gene': 'EREG', 'score': 27.47}, {'connected_gene': 'CXCL2', 'score': 21.58}, {'connected_gene': 'CXCL3', 'score': 20.3}, {'connected_gene': 'MTHFD2L', 'score': 3.78}, {'connected_gene': 'GC04P074159', 'score': 0.19}, {'connected_gene': 'EPGN', 'score': 0.18}]
chr4 GH04I073899 73899380 73899773 0.3 [{'connected_gene': 'CXCL3', 'score': 11.4}, {'connected_gene': 'PF4V1', 'score': 10.9}, {'connected_gene': 'CXCL8', 'score': 9.16}, {'connected_gene': 'EREG', 'score': 7.81}, {'connected_gene': 'PF4', 'score': 6.71}, {'connected_gene': 'CXCL2', 'score': 6.31}, {'connected_gene': 'CXCL1', 'score': 4.65}, {'connected_gene': 'CXCL6', 'score': 3.03}, {'connected_gene': 'HNRNPA1P55', 'score': 0.26}]
chr4 GH04I073891 73891601 73892373 0.97 [{'connected_gene': 'CXCL3', 'score': 27.88}, {'connected_gene': 'CXCL8', 'score': 16.73}, {'connected_gene': 'PF4V1', 'score': 16.36}, {'connected_gene': 'EREG', 'score': 14.91}, {'connected_gene': 'MTHFD2L', 'score': 12.07}, {'connected_gene': 'PPBP', 'score': 10.26}, {'connected_gene': 'CXCL2', 'score': 8.35}, {'connected_gene': 'CXCL1', 'score': 1.72}, {'connected_gene': 'HNRNPA1P55', 'score': 0.25}]
chr4 GH04I074092 74092584 74097009 1.54 [{'connected_gene': 'CXCL3', 'score': 24.02}, {'connected_gene': 'CXCL8', 'score': 18.31}, {'connected_gene': 'CXCL2', 'score': 13.5}, {'connected_gene': 'ANKRD17', 'score': 13.23}, {'connected_gene': 'EREG', 'score': 13.19}, {'connected_gene': 'HMGA1P2', 'score': 12.42}, {'connected_gene': 'MTHFD2L', 'score': 4.02}, {'connected_gene': 'LOC643014', 'score': 0.44}]
chr4 GH04I073915 73915852 73918740 1.07 [{'connected_gene': 'CXCL3', 'score': 17.96}, {'connected_gene': 'CXCL8', 'score': 15.07}, {'connected_gene': 'EREG', 'score': 14.97}, {'connected_gene': 'PF4', 'score': 9.23}, {'connected_gene': 'CXCL2', 'score': 8.39}, {'connected_gene': 'CXCL1', 'score': 2.43}, {'connected_gene': 'MTHFD2L', 'score': 1.65}, {'connected_gene': 'HNRNPA1P55', 'score': 0.34}]
chr4 GH04I074079 74079238 74079380 0.71 [{'connected_gene': 'CXCL2', 'score': 8.88}, {'connected_gene': 'CXCL3', 'score': 5.85}, {'connected_gene': 'EREG', 'score': 5.73}, {'connected_gene': 'CXCL8', 'score': 5.69}, {'connected_gene': 'MTHFD2L', 'score': 2.48}, {'connected_gene': 'LOC643014', 'score': 0.44}, {'connected_gene': 'PPBPP2', 'score': 0.34}]
chr4 GH04I074016 74016164 74016418 0.58 [{'connected_gene': 'CXCL2', 'score': 30.06}, {'connected_gene': 'CXCL3', 'score': 22.12}, {'connected_gene': 'EREG', 'score': 15.8}, {'connected_gene': 'CXCL8', 'score': 14.36}, {'connected_gene': 'MTHFD2L', 'score': 14.09}, {'connected_gene': 'PPBP', 'score': 11.66}, {'connected_gene': 'RN7SL218P', 'score': 0.77}, {'connected_gene': 'LOC105377275', 'score': 0.34}]
chr4 GH04I074018 74018256 74018476 0.28 [{'connected_gene': 'CXCL2', 'score': 24.74}, {'connected_gene': 'CXCL3', 'score': 20.4}, {'connected_gene': 'EREG', 'score': 19.8}, {'connected_gene': 'CXCL8', 'score': 17.55}, {'connected_gene': 'MTHFD2L', 'score': 13.24}, {'connected_gene': 'RN7SL218P', 'score': 0.44}, {'connected_gene': 'LOC105377275', 'score': 0.34}]
chr4 GH04I074081 74081164 74081293 0.22 [{'connected_gene': 'CXCL2', 'score': 2.55}, {'connected_gene': 'EREG', 'score': 1.87}, {'connected_gene': 'CXCL3', 'score': 1.76}, {'connected_gene': 'CXCL8', 'score': 1.68}, {'connected_gene': 'MTHFD2L', 'score': 1.4}, {'connected_gene': 'LOC643014', 'score': 0.44}, {'connected_gene': 'PPBPP2', 'score': 0.31}]
chr4 GH04I074019 74018800 74019225 0.7 [{'connected_gene': 'CXCL2', 'score': 33.26}, {'connected_gene': 'EREG', 'score': 23.43}, {'connected_gene': 'CXCL3', 'score': 20.99}, {'connected_gene': 'CXCL8', 'score': 19.81}, {'connected_gene': 'MTHFD2L', 'score': 13.76}, {'connected_gene': 'RN7SL218P', 'score': 0.44}, {'connected_gene': 'LOC105377275', 'score': 0.37}]
chr4 GH04I074397 74397601 74399169 1.17 [{'connected_gene': 'CXCL2', 'score': 5.75}, {'connected_gene': 'EREG', 'score': 0.29}, {'connected_gene': 'ENSG00000250532', 'score': 0.26}]
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 GH04I074228 74228601 74229961 1.26 [{'connected_gene': 'EPGN', 'score': 10.94}, {'connected_gene': 'CXCL8', 'score': 10.42}, {'connected_gene': 'EREG', 'score': 8.32}, {'connected_gene': 'CXCL2', 'score': 7.2}, {'connected_gene': 'CXCL3', 'score': 6.71}, {'connected_gene': 'MTHFD2L', 'score': 2.8}, {'connected_gene': 'GC04P074159', 'score': 0.2}]
chr4 GH04I074617 74617682 74621730 1.02 [{'connected_gene': 'EPGN', 'score': 9.68}, {'connected_gene': 'EREG', 'score': 5.54}, {'connected_gene': 'ENSG00000249942', 'score': 0.29}, {'connected_gene': 'BTC', 'score': 0.09}]
chr4 GH04I074267 74267655 74269343 0.57 [{'connected_gene': 'EPGN', 'score': 10.53}, {'connected_gene': 'EREG', 'score': 4.66}, {'connected_gene': 'CXCL2', 'score': 4.24}, {'connected_gene': 'GC04P074159', 'score': 0.14}, {'connected_gene': 'MTHFD2L', 'score': 0.1}]
chr4 GH04I074283 74283009 74284873 0.8 [{'connected_gene': 'EPGN', 'score': 11.64}, {'connected_gene': 'EREG', 'score': 6.87}, {'connected_gene': 'CXCL2', 'score': 4.91}, {'connected_gene': 'LOC105377276', 'score': 0.25}, {'connected_gene': 'GC04P074159', 'score': 0.13}, {'connected_gene': 'MTHFD2L', 'score': 0.1}]
chr4 GH04I074369 74369862 74370400 0.71 [{'connected_gene': 'EPGN', 'score': 10.04}, {'connected_gene': 'EREG', 'score': 6.17}, {'connected_gene': 'ENSG00000250532', 'score': 0.19}]
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 GH04I074205 74205102 74208924 1.54 [{'connected_gene': 'EREG', 'score': 20.54}, {'connected_gene': 'CXCL8', 'score': 18.8}, {'connected_gene': 'CXCL2', 'score': 15.53}, {'connected_gene': 'CXCL3', 'score': 14.91}, {'connected_gene': 'EPGN', 'score': 10.99}, {'connected_gene': 'MTHFD2L', 'score': 3.6}, {'connected_gene': 'GC04P074159', 'score': 0.25}]
chr4 GH04I074217 74217258 74217738 0.96 [{'connected_gene': 'EREG', 'score': 10.55}, {'connected_gene': 'CXCL2', 'score': 8.54}, {'connected_gene': 'CXCL8', 'score': 8.49}, {'connected_gene': 'CXCL3', 'score': 6.52}, {'connected_gene': 'MTHFD2L', 'score': 2.68}, {'connected_gene': 'GC04P074159', 'score': 0.22}, {'connected_gene': 'EPGN', 'score': 0.16}]
chr4 GH04I074335 74335695 74335972 0.49 [{'connected_gene': 'EREG', 'score': 18.11}, {'connected_gene': 'CXCL2', 'score': 9.88}, {'connected_gene': 'CXCL3', 'score': 8.86}, {'connected_gene': 'MTHFD2L', 'score': 3.92}, {'connected_gene': 'LOC105377276', 'score': 0.44}]
chr4 GH04I074317 74317901 74318130 0.58 [{'connected_gene': 'EREG', 'score': 22.97}, {'connected_gene': 'CXCL2', 'score': 15.23}, {'connected_gene': 'CXCL3', 'score': 6.8}, {'connected_gene': 'MTHFD2L', 'score': 2.05}, {'connected_gene': 'GC04M074313', 'score': 0.77}, {'connected_gene': 'LOC105377276', 'score': 0.39}]
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 GH04I074222 74222170 74225195 0.52 [{'connected_gene': 'EREG', 'score': 5.04}, {'connected_gene': 'GC04P074159', 'score': 0.21}, {'connected_gene': 'EPGN', 'score': 0.18}, {'connected_gene': 'MTHFD2L', 'score': 0.14}]
chr4 GH04I074219 74219323 74220828 0.43 [{'connected_gene': 'EREG', 'score': 5.04}, {'connected_gene': 'GC04P074159', 'score': 0.21}, {'connected_gene': 'EPGN', 'score': 0.17}, {'connected_gene': 'MTHFD2L', 'score': 0.14}]
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 GH04I074319 74319412 74321927 1.37 [{'connected_gene': 'EREG', 'score': 18.08}, {'connected_gene': 'EPGN', 'score': 7.38}, {'connected_gene': 'CXCL2', 'score': 4.9}, {'connected_gene': 'RASSF6', 'score': 4.54}, {'connected_gene': 'GC04M074313', 'score': 0.44}, {'connected_gene': 'LOC105377276', 'score': 0.44}]
chr4 GH04I074324 74324499 74326229 0.49 [{'connected_gene': 'EREG', 'score': 6.75}, {'connected_gene': 'LOC105377276', 'score': 0.77}, {'connected_gene': 'GC04M074313', 'score': 0.39}]
chr4 GH04I074365 74362904 74363053 0.51 [{'connected_gene': 'EREG', 'score': 0.77}, {'connected_gene': 'LOC105377276', 'score': 0.29}]
chr4 GH04I074353 74353574 74354923 0.2 [{'connected_gene': 'EREG', 'score': 5.27}, {'connected_gene': 'LOC105377276', 'score': 0.34}]
chr4 GH04I074362 74362564 74362713 0.51 [{'connected_gene': 'EREG', 'score': 5.28}, {'connected_gene': 'LOC105377276', 'score': 0.29}]
chr4 GH04I074364 74363144 74363293 0.51 [{'connected_gene': 'EREG', 'score': 550.77}, {'connected_gene': 'LOC105377276', 'score': 0.29}]
chr4 GH04I074338 74338904 74339053 0.58 [{'connected_gene': 'EREG', 'score': 4.72}, {'connected_gene': 'LOC105377276', 'score': 0.44}]
chr4 GH04I074394 74394522 74395183 1.02 [{'connected_gene': 'EREG', 'score': 0.31}, {'connected_gene': 'ENSG00000250532', 'score': 0.25}]
chr4 GH04I074054 74054032 74058622 1.68 [{'connected_gene': 'PPBPP2', 'score': 550.77}, {'connected_gene': 'CXCL8', 'score': 22.14}, {'connected_gene': 'EREG', 'score': 16.18}, {'connected_gene': 'MTHFD2L', 'score': 14.49}, {'connected_gene': 'CXCL2', 'score': 12.85}, {'connected_gene': 'CXCL3', 'score': 12.66}, {'connected_gene': 'LOC643014', 'score': 0.29}]
chr4 GH04I074326 74326943 74332664 1.59 [{'connected_gene': 'LOC105377276', 'score': 550.77}, {'connected_gene': 'EREG', 'score': 43.8}, {'connected_gene': 'CXCL2', 'score': 24.02}, {'connected_gene': 'CXCL3', 'score': 20.04}, {'connected_gene': 'RASSF6', 'score': 4.16}, {'connected_gene': 'MTHFD2L', 'score': 3.95}, {'connected_gene': 'GC04M074313', 'score': 0.37}]
chr4 GH04I074422 74422971 74424302 0.2 [{'connected_gene': 'ENSG00000250532', 'score': 0.37}, {'connected_gene': 'EREG', 'score': 0.22}]
chr4 GH04I074418 74418173 74418800 0.4 [{'connected_gene': 'ENSG00000250532', 'score': 0.34}, {'connected_gene': 'EREG', 'score': 0.23}]
chr4 GH04I074425 74425289 74434088 0.2 [{'connected_gene': 'ENSG00000250532', 'score': 0.39}, {'connected_gene': 'EREG', 'score': 0.21}]
chr4 GH04I074413 74413811 74416884 0.66 [{'connected_gene': 'ENSG00000250532', 'score': 0.31}, {'connected_gene': 'EREG', 'score': 0.23}]
chr4 GH04I074439 74439251 74440620 0.2 [{'connected_gene': 'ENSG00000250532', 'score': 550.77}, {'connected_gene': 'EREG', 'score': 0.19}]

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