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
ENST00000334982 [[19997759, 19998093], [20003099, 20003124], [20006320, 20006411], [20007427, 20007563], [20013151, 20013297], [20013745, 20014273]] [[19998040, 19998093], [20003099, 20003124], [20006320, 20006411], [20007427, 20007563], [20013151, 20013297], [20013745, 20013831]]
ENST00000484480 [[19997953, 19998093], [19999005, 19999161], [20003099, 20003124], [20006320, 20006411], [20007427, 20007563], [20013151, 20013297], [20013745, 20014273]] None
ENST00000310450 [[19997953, 19998093], [20003099, 20003124], [20006320, 20006411], [20007427, 20007563], [20013745, 20014273]] [[19998040, 19998093], [20003099, 20003124], [20006320, 20006411], [20007427, 20007563], [20013745, 20013776]]
ENST00000463154 [[19997991, 19998093], [20003099, 20003124], [20006312, 20006411], [20007427, 20007563], [20013151, 20013297], [20013745, 20014273]] None
ENST00000480550 [[19998002, 19998093], [20006312, 20006411], [20007427, 20007563], [20013151, 20013297], [20013745, 20014273]] None
ENST00000398602 [[19998033, 19998685], [20003099, 20003124], [20006320, 20006411], [20007427, 20007563], [20013151, 20013297], [20013745, 20014299]] [[19998668, 19998685], [20003099, 20003124], [20006320, 20006411], [20007427, 20007563], [20013151, 20013297], [20013745, 20013831]]
ENST00000481837 [[19998444, 19998844], [20003099, 20003299]] None
NM_181528 [[19997933, 19998093], [20003099, 20003124], [20006320, 20006411], [20007427, 20007563], [20013745, 20014273]] [[19998040, 19998093], [20003099, 20003124], [20006320, 20006411], [20007427, 20007563], [20013745, 20013776]]
NM_016100 [[19997933, 19998093], [20003099, 20003124], [20006320, 20006411], [20007427, 20007563], [20013151, 20013297], [20013745, 20014273]] [[19998040, 19998093], [20003099, 20003124], [20006320, 20006411], [20007427, 20007563], [20013151, 20013297], [20013745, 20013831]]
NM_181527 [[19998438, 19998685], [20003099, 20003124], [20006320, 20006411], [20007427, 20007563], [20013151, 20013297], [20013745, 20014273]] [[19998668, 19998685], [20003099, 20003124], [20006320, 20006411], [20007427, 20007563], [20013151, 20013297], [20013745, 20013831]]
Promoter
Chrom Start End Description
chr20 19997929 19997945 CAGE_peak_2_at_NAA20_5end
chr20 19997948 19998017 CAGE_peak_1_at_NAA20_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I019823 19823402 19824328 0.95 [{'connected_gene': 'RPL12P12', 'score': 550.77}, {'connected_gene': 'ENSG00000232675', 'score': 10.61}, {'connected_gene': 'RIN2', 'score': 10.53}, {'connected_gene': 'NAA20', 'score': 9.95}, {'connected_gene': 'PIR61811', 'score': 0.37}]
chr20 GH20I019884 19884036 19891660 2.32 [{'connected_gene': 'RIN2', 'score': 555.01}, {'connected_gene': 'NAA20', 'score': 10.58}, {'connected_gene': 'RPL12P12', 'score': 4.33}, {'connected_gene': 'ENSG00000275142', 'score': 0.37}, {'connected_gene': 'GC20P019952', 'score': 0.21}]
chr20 GH20I019859 19859920 19861882 0.9 [{'connected_gene': 'RIN2', 'score': 11.48}, {'connected_gene': 'NAA20', 'score': 10.06}, {'connected_gene': 'ENSG00000275142', 'score': 0.39}, {'connected_gene': 'RPL12P12', 'score': 0.28}]
chr20 GH20I019813 19812367 19818691 1.42 [{'connected_gene': 'RIN2', 'score': 18.84}, {'connected_gene': 'ENSG00000232675', 'score': 10.4}, {'connected_gene': 'NAA20', 'score': 10.03}, {'connected_gene': 'RPL12P12', 'score': 4.84}, {'connected_gene': 'PIR61811', 'score': 0.44}]
chr20 GH20I019821 19821357 19822617 0.31 [{'connected_gene': 'RIN2', 'score': 10.54}, {'connected_gene': 'ENSG00000232675', 'score': 10.4}, {'connected_gene': 'NAA20', 'score': 9.95}, {'connected_gene': 'RPL12P12', 'score': 0.77}, {'connected_gene': 'PIR61811', 'score': 0.39}]
chr20 GH20I019909 19909601 19910400 0.95 [{'connected_gene': 'RIN2', 'score': 11.37}, {'connected_gene': 'NAA20', 'score': 11.23}, {'connected_gene': 'ENSG00000275142', 'score': 0.28}, {'connected_gene': 'GC20P019952', 'score': 0.26}]
chr20 GH20I019913 19913517 19921855 1.74 [{'connected_gene': 'RIN2', 'score': 11.49}, {'connected_gene': 'NAA20', 'score': 11.24}, {'connected_gene': 'GC20P019952', 'score': 0.28}, {'connected_gene': 'ENSG00000275142', 'score': 0.25}]
chr20 GH20I019908 19908710 19908863 0.23 [{'connected_gene': 'RIN2', 'score': 11.37}, {'connected_gene': 'NAA20', 'score': 11.23}, {'connected_gene': 'ENSG00000275142', 'score': 0.28}, {'connected_gene': 'GC20P019952', 'score': 0.26}]
chr20 GH20I019907 19907401 19907693 0.83 [{'connected_gene': 'RIN2', 'score': 11.92}, {'connected_gene': 'NAA20', 'score': 10.64}, {'connected_gene': 'ENSG00000275142', 'score': 0.28}, {'connected_gene': 'GC20P019952', 'score': 0.25}]
chr20 GH20I019904 19904279 19905085 0.2 [{'connected_gene': 'RIN2', 'score': 11.92}, {'connected_gene': 'NAA20', 'score': 10.63}, {'connected_gene': 'ENSG00000232675', 'score': 9.89}, {'connected_gene': 'ENSG00000275142', 'score': 0.29}, {'connected_gene': 'GC20P019952', 'score': 0.25}]
chr20 GH20I019922 19922369 19923052 0.38 [{'connected_gene': 'RIN2', 'score': 11.5}, {'connected_gene': 'NAA20', 'score': 10.81}, {'connected_gene': 'GC20P019952', 'score': 0.29}, {'connected_gene': 'ENSG00000275142', 'score': 0.23}]
chr20 GH20I020008 20008453 20009528 0.2 [{'connected_gene': 'RIN2', 'score': 9.96}, {'connected_gene': 'NAA20', 'score': 0.44}, {'connected_gene': 'GC20P019952', 'score': 0.22}]
chr20 GH20I019984 19984715 19987369 1.3 [{'connected_gene': 'RIN2', 'score': 15.15}, {'connected_gene': 'NAA20', 'score': 11.03}, {'connected_gene': 'GC20P019952', 'score': 0.29}]
chr20 GH20I019971 19971174 19972089 0.51 [{'connected_gene': 'RIN2', 'score': 10.36}, {'connected_gene': 'GC20P019952', 'score': 0.37}, {'connected_gene': 'NAA20', 'score': 0.25}]
chr20 GH20I019973 19973155 19982165 1.19 [{'connected_gene': 'RIN2', 'score': 15.44}, {'connected_gene': 'NAA20', 'score': 11.33}, {'connected_gene': 'GC20P019952', 'score': 0.34}]
chr20 GH20I019956 19956433 19958796 0.2 [{'connected_gene': 'RIN2', 'score': 11.03}, {'connected_gene': 'NAA20', 'score': 10.74}, {'connected_gene': 'GC20P019952', 'score': 0.77}]
chr20 GH20I019970 19970133 19970723 0.38 [{'connected_gene': 'RIN2', 'score': 10.13}, {'connected_gene': 'GC20P019952', 'score': 0.37}, {'connected_gene': 'NAA20', 'score': 0.25}]
chr20 GH20I019989 19989912 19995909 1.25 [{'connected_gene': 'RIN2', 'score': 15.59}, {'connected_gene': 'NAA20', 'score': 12.1}, {'connected_gene': 'GC20P019952', 'score': 0.26}]
chr20 GH20I020004 20004866 20005999 0.56 [{'connected_gene': 'RIN2', 'score': 9.92}, {'connected_gene': 'NAA20', 'score': 0.39}, {'connected_gene': 'GC20P019952', 'score': 0.23}]
chr20 GH20I020001 20001997 20004799 1.58 [{'connected_gene': 'RIN2', 'score': 7.69}, {'connected_gene': 'NAA20', 'score': 0.39}, {'connected_gene': 'GC20P019952', 'score': 0.23}]
chr20 GH20I020009 20009760 20011501 1.36 [{'connected_gene': 'RIN2', 'score': 9.66}, {'connected_gene': 'NAA20', 'score': 0.44}, {'connected_gene': 'GC20P019952', 'score': 0.22}]
chr20 GH20I020546 20546477 20550910 1.32 [{'connected_gene': 'NAA20', 'score': 10.07}, {'connected_gene': 'RALGAPA2', 'score': 6.14}, {'connected_gene': 'GC20M020616', 'score': 0.2}, {'connected_gene': 'GC20P020439', 'score': 0.14}]
chr20 GH20I020456 20456167 20456977 0.38 [{'connected_gene': 'NAA20', 'score': 9.89}, {'connected_gene': 'GC20P020439', 'score': 0.37}, {'connected_gene': 'GC20P020419', 'score': 0.28}, {'connected_gene': 'GC20M020616', 'score': 0.1}, {'connected_gene': 'RALGAPA2', 'score': 0.07}]
chr20 GH20I020457 20456989 20458787 0.46 [{'connected_gene': 'NAA20', 'score': 9.89}, {'connected_gene': 'GC20P020439', 'score': 0.37}, {'connected_gene': 'GC20P020419', 'score': 0.28}, {'connected_gene': 'GC20M020616', 'score': 0.1}, {'connected_gene': 'RALGAPA2', 'score': 0.07}]
chr20 GH20I019942 19942601 19946752 1.14 [{'connected_gene': 'NAA20', 'score': 11.52}, {'connected_gene': 'RIN2', 'score': 11.5}, {'connected_gene': 'GC20P019952', 'score': 0.44}, {'connected_gene': 'ENSG00000275142', 'score': 0.19}]
chr20 GH20I019948 19947530 19948554 1.24 [{'connected_gene': 'NAA20', 'score': 11.53}, {'connected_gene': 'RIN2', 'score': 11.5}, {'connected_gene': 'GC20P019952', 'score': 0.77}, {'connected_gene': 'ENSG00000275142', 'score': 0.18}]
chr20 GH20I019900 19900943 19901074 0.27 [{'connected_gene': 'NAA20', 'score': 10.39}, {'connected_gene': 'ENSG00000232675', 'score': 9.9}, {'connected_gene': 'RIN2', 'score': 1.72}, {'connected_gene': 'ENSG00000275142', 'score': 0.31}, {'connected_gene': 'GC20P019952', 'score': 0.23}]
chr20 GH20I019947 19947187 19947288 0.2 [{'connected_gene': 'NAA20', 'score': 11.53}, {'connected_gene': 'RIN2', 'score': 11.5}, {'connected_gene': 'GC20P019952', 'score': 0.44}, {'connected_gene': 'ENSG00000275142', 'score': 0.18}]
chr20 GH20I019982 19982303 19983292 0.31 [{'connected_gene': 'NAA20', 'score': 11.34}, {'connected_gene': 'RIN2', 'score': 4.62}, {'connected_gene': 'GC20P019952', 'score': 0.31}]
chr20 GH20I019893 19893966 19895171 0.38 [{'connected_gene': 'NAA20', 'score': 10.57}, {'connected_gene': 'ENSG00000275142', 'score': 0.34}, {'connected_gene': 'GC20P019952', 'score': 0.22}, {'connected_gene': 'RIN2', 'score': 0.12}]
chr20 GH20I020002 19999417 19999566 0.63 [{'connected_gene': 'NAA20', 'score': 0.37}, {'connected_gene': 'GC20P019952', 'score': 0.25}, {'connected_gene': 'RIN2', 'score': 0.07}]
chr20 GH20I019892 19892654 19893083 0.2 [{'connected_gene': 'NAA20', 'score': 10.57}, {'connected_gene': 'ENSG00000275142', 'score': 0.34}, {'connected_gene': 'GC20P019952', 'score': 0.22}, {'connected_gene': 'RIN2', 'score': 0.12}]
chr20 GH20I019926 19926271 19927233 0.31 [{'connected_gene': 'NAA20', 'score': 11.53}, {'connected_gene': 'GC20P019952', 'score': 0.31}, {'connected_gene': 'ENSG00000275142', 'score': 0.23}, {'connected_gene': 'RIN2', 'score': 0.1}]
chr20 GH20I019931 19931681 19933273 1.08 [{'connected_gene': 'NAA20', 'score': 11.55}, {'connected_gene': 'GC20P019952', 'score': 0.34}, {'connected_gene': 'ENSG00000275142', 'score': 0.21}, {'connected_gene': 'RIN2', 'score': 0.09}]
chr20 GH20I019967 19967791 19969306 0.89 [{'connected_gene': 'NAA20', 'score': 11.14}, {'connected_gene': 'RIN2', 'score': 10.16}, {'connected_gene': 'GC20P019952', 'score': 0.37}]
chr20 GH20I019963 19963858 19965630 1.39 [{'connected_gene': 'NAA20', 'score': 10.91}, {'connected_gene': 'RIN2', 'score': 10.17}, {'connected_gene': 'GC20P019952', 'score': 0.39}]
chr20 GH20I019966 19966236 19967335 0.63 [{'connected_gene': 'NAA20', 'score': 10.91}, {'connected_gene': 'GC20P019952', 'score': 0.39}, {'connected_gene': 'RIN2', 'score': 0.08}]
chr20 GH20I019928 19928088 19929800 0.71 [{'connected_gene': 'NAA20', 'score': 11.54}, {'connected_gene': 'GC20P019952', 'score': 0.34}, {'connected_gene': 'ENSG00000275142', 'score': 0.22}, {'connected_gene': 'RIN2', 'score': 0.09}]
chr20 GH20I019902 19902068 19902744 0.31 [{'connected_gene': 'NAA20', 'score': 10.4}, {'connected_gene': 'ENSG00000232675', 'score': 9.9}, {'connected_gene': 'ENSG00000275142', 'score': 0.29}, {'connected_gene': 'GC20P019952', 'score': 0.23}, {'connected_gene': 'RIN2', 'score': 0.11}]
chr20 GH20I019933 19933350 19938279 1.5 [{'connected_gene': 'NAA20', 'score': 11.55}, {'connected_gene': 'GC20P019952', 'score': 0.37}, {'connected_gene': 'ENSG00000275142', 'score': 0.21}, {'connected_gene': 'RIN2', 'score': 0.1}]
chr20 GH20I019996 19996381 19997460 0.51 [{'connected_gene': 'NAA20', 'score': 0.34}, {'connected_gene': 'GC20P019952', 'score': 0.26}, {'connected_gene': 'RIN2', 'score': 0.07}]
chr20 GH20I019903 19903002 19903936 1.58 [{'connected_gene': 'NAA20', 'score': 10.4}, {'connected_gene': 'ENSG00000232675', 'score': 9.89}, {'connected_gene': 'ENSG00000275142', 'score': 0.29}, {'connected_gene': 'GC20P019952', 'score': 0.25}, {'connected_gene': 'RIN2', 'score': 0.11}]
chr20 GH20I020000 20000298 20001271 0.31 [{'connected_gene': 'NAA20', 'score': 0.37}, {'connected_gene': 'GC20P019952', 'score': 0.25}, {'connected_gene': 'RIN2', 'score': 0.07}]
chr20 GH20I019960 19960598 19962131 0.2 [{'connected_gene': 'NAA20', 'score': 11.33}, {'connected_gene': 'RIN2', 'score': 10.4}, {'connected_gene': 'GC20P019952', 'score': 0.44}]
chr20 GH20I019959 19959157 19959166 0.31 [{'connected_gene': 'NAA20', 'score': 10.74}, {'connected_gene': 'RIN2', 'score': 10.22}, {'connected_gene': 'GC20P019952', 'score': 0.44}]
chr20 GH20I019999 19999577 19999726 0.63 [{'connected_gene': 'NAA20', 'score': 0.37}, {'connected_gene': 'GC20P019952', 'score': 0.25}, {'connected_gene': 'RIN2', 'score': 0.07}]
chr20 GH20I019905 19904001 19904200 0.4 [{'connected_gene': 'NAA20', 'score': 10.4}, {'connected_gene': 'ENSG00000232675', 'score': 9.89}, {'connected_gene': 'ENSG00000275142', 'score': 0.29}, {'connected_gene': 'GC20P019952', 'score': 0.25}, {'connected_gene': 'RIN2', 'score': 0.11}]
chr20 GH20I020016 20016426 20020489 2.24 [{'connected_gene': 'NAA20', 'score': 550.77}, {'connected_gene': 'CRNKL1', 'score': 12.04}, {'connected_gene': 'CFAP61', 'score': 9.97}, {'connected_gene': 'LOC105372553', 'score': 0.77}]
chr20 GH20I020012 20012124 20013041 0.2 [{'connected_gene': 'NAA20', 'score': 0.77}, {'connected_gene': 'GC20P019952', 'score': 0.22}]
chr20 GH20I020451 20451897 20453200 1.37 [{'connected_gene': 'INSM1', 'score': 12.33}, {'connected_gene': 'CFAP61', 'score': 11.53}, {'connected_gene': 'NAA20', 'score': 9.89}, {'connected_gene': 'ENSG00000225417', 'score': 9.63}, {'connected_gene': 'GC20P020439', 'score': 0.39}, {'connected_gene': 'GC20P020419', 'score': 0.29}, {'connected_gene': 'GC20M020616', 'score': 0.1}, {'connected_gene': 'RALGAPA2', 'score': 0.07}]
chr20 GH20I020021 20021010 20023733 0.46 [{'connected_gene': 'LOC105372553', 'score': 550.77}, {'connected_gene': 'CFAP61', 'score': 10.05}, {'connected_gene': 'NAA20', 'score': 0.44}]
chr20 GH20I019954 19954297 19954897 0.2 [{'connected_gene': 'GC20P019952', 'score': 550.77}, {'connected_gene': 'RIN2', 'score': 11.03}, {'connected_gene': 'RPL12P12', 'score': 5.02}, {'connected_gene': 'NAA20', 'score': 0.21}]
chr20 GH20I019790 19790470 19791150 0.2 [{'connected_gene': 'ENSG00000232675', 'score': 10.93}, {'connected_gene': 'RIN2', 'score': 10.35}, {'connected_gene': 'NAA20', 'score': 9.94}, {'connected_gene': 'PIR61811', 'score': 0.37}, {'connected_gene': 'ENSG00000268628', 'score': 0.29}, {'connected_gene': 'LOC100421663', 'score': 0.29}]
chr20 GH20I019782 19782668 19787931 1.56 [{'connected_gene': 'ENSG00000232675', 'score': 11.3}, {'connected_gene': 'CRNKL1', 'score': 10.79}, {'connected_gene': 'RIN2', 'score': 10.74}, {'connected_gene': 'NAA20', 'score': 10.73}, {'connected_gene': 'PIR61811', 'score': 0.34}, {'connected_gene': 'ENSG00000268628', 'score': 0.31}, {'connected_gene': 'LOC100421663', 'score': 0.31}]
chr20 GH20I019808 19808975 19809228 0.31 [{'connected_gene': 'PIR61811', 'score': 550.77}, {'connected_gene': 'NAA20', 'score': 9.89}, {'connected_gene': 'RPL12P12', 'score': 0.39}, {'connected_gene': 'RIN2', 'score': 0.23}, {'connected_gene': 'LOC100421663', 'score': 0.23}]
chr20 GH20I019809 19809249 19810179 0.31 [{'connected_gene': 'PIR61811', 'score': 550.77}, {'connected_gene': 'NAA20', 'score': 9.89}, {'connected_gene': 'RPL12P12', 'score': 0.39}, {'connected_gene': 'RIN2', 'score': 0.23}, {'connected_gene': 'LOC100421663', 'score': 0.23}]
chr20 GH20I019692 19692660 19693200 0.75 [{'connected_gene': 'PIR51262', 'score': 550.77}, {'connected_gene': 'NAA20', 'score': 10.15}, {'connected_gene': 'PIR38492', 'score': 0.08}, {'connected_gene': 'SLC24A3', 'score': 0.04}]
chr20 GH20I019806 19806746 19808753 0.99 [{'connected_gene': 'PIR61811', 'score': 550.77}, {'connected_gene': 'ENSG00000232675', 'score': 11.38}, {'connected_gene': 'NAA20', 'score': 9.89}, {'connected_gene': 'ENSG00000268628', 'score': 0.25}, {'connected_gene': 'RIN2', 'score': 0.23}, {'connected_gene': 'LOC100421663', 'score': 0.23}]
chr20 GH20I019951 19951849 19952471 0.31 [{'connected_gene': 'GC20P019952', 'score': 550.77}, {'connected_gene': 'NAA20', 'score': 11.54}, {'connected_gene': 'RIN2', 'score': 11.5}, {'connected_gene': 'ENSG00000275142', 'score': 0.18}]
chr20 GH20I020028 20028519 20028914 0.24 [{'connected_gene': 'GC20P020024', 'score': 0.77}, {'connected_gene': 'NAA20', 'score': 0.39}, {'connected_gene': 'CFAP61', 'score': 0.34}, {'connected_gene': 'GC20M020024', 'score': 0.05}]
chr20 GH20I020024 20024354 20025891 0.49 [{'connected_gene': 'GC20P020024', 'score': 550.77}, {'connected_gene': 'LOC105372553', 'score': 0.77}, {'connected_gene': 'NAA20', 'score': 0.44}, {'connected_gene': 'CFAP61', 'score': 0.31}, {'connected_gene': 'GC20M020024', 'score': 0.05}]

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